{ "id": 16089, "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0015161", "properties": { "xrefs": [ "GARD:0019833", "MEDGEN:1842829", "Orphanet:102285", "UMLS:C5680373" ], "synonyms": [ "MCA without intellectual disability", "multiple congenital anomalies without intellectual disability with or without dysmorphism" ] }, "isLeaf": false, "isRoot": false, "child_count": 168, "parents": [ { "id": 18951, "label": "multiple congenital anomalies/dysmorphic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19507 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018876", "MEDGEN:1843247", "Orphanet:68341", "UMLS:C5681310" ], "synonyms": [ "MCAHS" ] }, "child_count": 5, "reference_id": "MONDO:0019042" } ], "children": [ { "id": 4538, "label": "Treacher-Collins syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 16089, 16319 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2908", "GARD:0009124", "MEDGEN:66078", "MedDRA:10051456", "NCIT:C75018", "NORD:1785", "OMIMPS:154500", "Orphanet:861", "SCTID:62767009", "UMLS:C0242387", "icd11.foundation:969026676" ], "synonyms": [ "Franceschetti-Klein syndrome", "Treacher Collins Syndrome", "Treacher Collins syndrome", "Treacher-Collins syndrome", "mandibulofacial dysostosis without limb anomalies", "MFD1", "TCOF", "TCS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects." }, "child_count": 16, "reference_id": "MONDO:0002457" }, { "id": 8448, "label": "branchio-oto-renal syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14702", "GARD:0010147", "ICD9:759.89", "MEDGEN:82693", "MESH:D019280", "MedDRA:10071135", "NANDO:1200675", "NCIT:C98983", "OMIMPS:113650", "Orphanet:107", "SCTID:290006", "UMLS:C0265234", "Wikipedia:Branchio-oto-renal_syndrome", "icd11.foundation:504227287" ], "synonyms": [ "Branchio-Oto-renal syndrome", "Melnick-Fraser syndrome", "branchio-oto-renal syndrome", "branchiootorenal syndrome", "Branchio oto renal syndrome", "bor syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts)." }, "child_count": 6, "reference_id": "MONDO:0007029" }, { "id": 8478, "label": "acrorenal syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060347", "GARD:0000514", "MEDGEN:501193", "MESH:C563159", "OMIM:102520", "Orphanet:971", "SCTID:720458005", "UMLS:C3495490", "icd11.foundation:1948375645" ], "synonyms": [ "acrorenal syndrome" ], "definition": "Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected." }, "child_count": 1, "reference_id": "MONDO:0007059" }, { "id": 8551, "label": "Townes-Brocks syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 16089, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050887", "GARD:0007784", "ICD9:759.89", "MEDGEN:75555", "MESH:C536974", "NCIT:C99085", "NORD:1780", "OMIMPS:107480", "Orphanet:857", "SCTID:24750000", "UMLS:C0265246", "icd11.foundation:66554749" ], "synonyms": [ "TBS", "Townes syndrome", "Townes-Brocks syndrome", "imperforate anus with hand, foot and ear anomalies", "rear syndrome", "renal-ear-anal-radial syndrome", "sensorineural deafness with imperforate anus and hypoplastic thumbs", "TBS1", "Townes-Brocks syndrome 1", "Townes-Brocks-branchiootorenal-like syndrome", "anus, imperforate, with hand, foot and ear anomalies", "anus, imperforate, with hand, foot, and Ear anomalies", "deafness, sensorineural, with imperforate anus and hypoplastic thumbs", "deafness, sensorineural, with imperforate anus and thumb anomalies", "renal-Ear-anal-radial syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." }, "child_count": 8, "reference_id": "MONDO:0007142" }, { "id": 8603, "label": "Ascher syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000201", "ICD9:246.8", "ICD9:374.89", "MEDGEN:137910", "MESH:C562742", "OMIM:109900", "Orphanet:1253", "SCTID:28599006", "UMLS:C0339085", "icd11.foundation:1063203220" ], "synonyms": [ "Ascher syndrome", "blepharochalasis and Double type lip", "blepharochalasis-double lip syndrome", "Ascher's syndrome", "Double upper lip, blepharochalasis and enlargement of the thyroid", "blepharochalasis - double lip", "blepharochalasis and DOUBLE LIP", "blepharochalasis and Double lip", "blepharochalasis and double lip" ], "definition": "Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported." }, "child_count": 0, "reference_id": "MONDO:0007198" }, { "id": 8636, "label": "brachytelephalangy-dysmorphism-Kallmann syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 16526, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016562", "MEDGEN:444052", "MESH:C537101", "OMIM:113480", "Orphanet:1295", "UMLS:C2931421" ], "synonyms": [ "BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." }, "child_count": 0, "reference_id": "MONDO:0007231" }, { "id": 8640, "label": "branchiooculofacial syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050691", "GARD:0003212", "ICD9:759.89", "MEDGEN:91261", "NORD:871", "OMIM:113620", "Orphanet:1297", "SCTID:449821007", "UMLS:C0376524" ], "synonyms": [ "BOFS", "BOFS syndrome", "Bof syndrome", "Branchio Oculo Facial Syndrome", "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing", "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging", "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageing", "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging", "branchio-oculo-facial syndrome", "branchiooculofacial syndrome", "hemangiomatous branchial clefts-Lip Pseudocleft syndrome", "lip Pseudocleft-Hemangiomatous branchial cyst syndrome" ], "definition": "Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth." }, "child_count": 0, "reference_id": "MONDO:0007235" }, { "id": 8657, "label": "Gordon syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111607", "GARD:0002553", "ICD9:579.8", "MEDGEN:66314", "MESH:C537288", "NORD:1199", "OMIM:114300", "Orphanet:376", "SCTID:237850008", "UMLS:C0220666" ], "synonyms": [ "Gordon syndrome", "camptodactyly-cleft palate-clubfoot syndrome", "distal arthrogryposis type 3", "distal arthrogryposis type IIA", "DA3", "arthrogryposis distal type 3", "arthrogryposis multiplex congenita, distal, type 2A", "arthrogryposis, distal, type 3", "camptodactyly, cleft palate, and clubfoot" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition." }, "child_count": 0, "reference_id": "MONDO:0007252" }, { "id": 8679, "label": "cataract-aberrant oral frenula-growth delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005554", "MEDGEN:350520", "MESH:C536691", "OMIM:115645", "Orphanet:1373", "SCTID:715988005", "UMLS:C1861835" ], "synonyms": [ "Wellesley-Carman-French syndrome", "Wellesley Carmen French syndrome", "cataract, aberrant oral frenula, and growth retardation", "cataracts, aberrant oral frenula, and growth retardation" ], "definition": "Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait." }, "child_count": 0, "reference_id": "MONDO:0007277" }, { "id": 8714, "label": "cherubism", "isLeaf": false, "isRoot": false, "parents": [ 2903, 6893, 16089, 16218, 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1856", "GARD:0006036", "ICD9:526.89", "MEDGEN:40219", "MESH:D002636", "MedDRA:10070535", "NANDO:2200444", "NCIT:C84630", "OMIM:118400", "Orphanet:184", "SCTID:76098004", "UMLS:C0008029", "icd11.foundation:1729261719" ], "synonyms": [ "CRBM", "cherubism", "familial fibrous dysplasia of the jaws", "familial multilocular cystic disease of the jaws", "Crbm" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." }, "child_count": 6, "reference_id": "MONDO:0007315" }, { "id": 8716, "label": "Alagille syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6624, 7019, 16089, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9245", "GARD:0000804", "ICD9:759.89", "MEDGEN:39014", "MESH:D016738", "MedDRA:10053870", "NANDO:1200918", "NANDO:1200919", "NANDO:2200931", "NCIT:C35139", "NORD:748", "OMIMPS:118450", "Orphanet:52", "SCTID:31742004", "UMLS:C0085280", "icd11.foundation:1249656206" ], "synonyms": [ "Alagille syndrome", "Alagille-Watson syndrome", "Arteriohepatic dysplasia", "syndromic bile duct paucity", "Cardiovertebral syndrome", "Hepatofacioneurocardiovertebral syndrome", "Watson Alagille syndrome", "Watson-Miller syndrome", "hepatic ductular hypoplasia", "paucity of interlobular bile ducts" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys." }, "child_count": 15, "reference_id": "MONDO:0007318" }, { "id": 8732, "label": "cleft palate-lateral synechia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080313", "GARD:0001391", "ICD9:759.89", "MEDGEN:162888", "MESH:C563047", "OMIM:119550", "Orphanet:2016", "SCTID:403772000", "UMLS:C0795898" ], "synonyms": [ "CPLS syndrome", "cleft palate-lateral synechia syndrome", "Cpls syndrome", "cleft palate lateral synechia syndrome", "syngnathia" ], "definition": "Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner." }, "child_count": 0, "reference_id": "MONDO:0007337" }, { "id": 8734, "label": "blepharocheilodontic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16089, 19138, 19756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080344", "GARD:0002071", "MEDGEN:349302", "MESH:C536188", "OMIMPS:119580", "Orphanet:1997", "SCTID:717911008", "UMLS:C1861536", "icd11.foundation:755252042" ], "synonyms": [ "BCD syndrome", "Elsching syndrome", "blepharo-cheilo-odontic syndrome", "blepharocheilodontic syndrome", "clefting-ectropion-conical teeth syndrome", "ectropion inferior-cleft lip and or palate syndrome", "ectropion inferior-cleft lip and/or palate syndrome", "lagophthalmia-cleft lip and palate syndrome", "BCDS", "BCDS1", "Elschnig syndrome", "blepharo-cheilo-dontic syndrome", "blepharocheilodontic syndrome 1", "clefting, ectropion, and conical teeth", "ectropion inferior cleft lip and or palate", "ectropion, inferior, with cleft lip and/or palate", "lagophthalmia with bilateral cleft lip and palate" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." }, "child_count": 12, "reference_id": "MONDO:0007339" }, { "id": 8786, "label": "craniofacial-deafness-hand syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111336", "GARD:0001571", "ICD9:759.89", "MEDGEN:377694", "MESH:C536453", "OMIM:122880", "Orphanet:1529", "SCTID:702362004", "UMLS:C1852510", "icd11.foundation:1355682887" ], "synonyms": [ "CDHS", "Sommer-Young-Wee-Frye syndrome", "craniofacial-deafness-hand syndrome", "craniofacial deafness hand syndrome", "features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss" ], "definition": "Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features." }, "child_count": 0, "reference_id": "MONDO:0007395" }, { "id": 8800, "label": "cryptomicrotia-brachydactyly-excess fingertip arch syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008174", "MEDGEN:377678", "MESH:C536219", "OMIM:123560", "Orphanet:1547", "SCTID:725096002", "UMLS:C1852454" ], "synonyms": [ "Cryptomicrotia-brachydactyly syndrome", "Tonoki-Ohura-Niikawa syndrome", "CRYPTOMICROTIA-brachydactyly syndrome", "Cryptomicrotia brachydactyly syndrome", "Cryptomicrotia brachydactyly syndrome excess fingertip arch", "Tonoki Ohura Niikawa syndrome", "bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch" ], "definition": "Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988." }, "child_count": 0, "reference_id": "MONDO:0007409" }, { "id": 8803, "label": "Beare-Stevenson cutis gyrata syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 16089, 16201 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050660", "GARD:0000332", "ICD9:759.89", "MEDGEN:377668", "MESH:C565129", "NCIT:C123813", "OMIM:123790", "Orphanet:1555", "SCTID:703528008", "UMLS:C1852406", "icd11.foundation:947865461" ], "synonyms": [ "Beare-Stevenson cutis gyrata syndrome", "BSTVS", "Beare Stevenson syndrome", "Beare-Stevenson syndrome", "cutis gyrata - acanthosis nigricans - craniosynostosis", "cutis gyrata syndrome of Beare and Stevenson", "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy." }, "child_count": 0, "reference_id": "MONDO:0007412" }, { "id": 8804, "label": "Cyprus facial-neuromusculoskeletal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 19743 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009487", "MEDGEN:343800", "MESH:C536229", "OMIM:123853", "Orphanet:2674", "SCTID:732261005", "UMLS:C1852396" ], "synonyms": [ "CYPRUS facial neuromusculoskeletal syndrome", "unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects." }, "child_count": 0, "reference_id": "MONDO:0007413" }, { "id": 8818, "label": "deafness-craniofacial syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001686", "MEDGEN:342201", "MESH:C565118", "OMIM:125230", "Orphanet:3241", "SCTID:716245003", "UMLS:C1852278" ], "synonyms": [ "deafness-craniofacial syndrome", "deafness craniofacial syndrome" ], "definition": "Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007428" }, { "id": 8850, "label": "short stature-valvular heart disease-characteristic facies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016612", "MEDGEN:338866", "MESH:C565094", "OMIM:126190", "Orphanet:2868", "UMLS:C1852073" ], "synonyms": [ "disproportionate short stature with ptosis and valvular heart lesions" ], "definition": "Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait." }, "child_count": 0, "reference_id": "MONDO:0007461" }, { "id": 8864, "label": "3-M syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060241", "GARD:0005667", "ICD9:756.59", "MEDGEN:336440", "MESH:C535314", "NORD:1767", "OMIMPS:273750", "Orphanet:2616", "SCTID:702342007", "UMLS:C1848862" ], "synonyms": [ "3-M syndrome", "Three M Syndrome", "Yakut short stature syndrome", "three M syndrome", "3M1", "three M syndrome 1", "3-MSBN", "3M syndrome", "dwarfism with tall vertebrae", "gloomy face syndrome Yakut short stature syndrome, included", "three-M slender-boned nanism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." }, "child_count": 9, "reference_id": "MONDO:0007477" }, { "id": 8959, "label": "external auditory canal atresia-vertical talus-hypertelorism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18362, 21538 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004638", "MEDGEN:361813", "OMIM:133705", "Orphanet:3023", "UMLS:C1876181" ], "synonyms": [ "Rasmussen-Johnsen-Thomsen syndrome", "Rasmussen Johnsen Thomsen syndrome", "Rasmussen syndrome", "external auditory canal, bilateral atresia of, with congenital vertical talus", "inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0007587" }, { "id": 8973, "label": "femoral-facial syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000061", "ICD9:759.89", "MEDGEN:120523", "MESH:C537916", "NORD:1136", "OMIM:134780", "Orphanet:1988", "SCTID:13280000", "UMLS:C0265263", "icd11.foundation:505576809" ], "synonyms": [ "FFS", "FHUFS", "Femoral Facial Syndrome", "femoral facial syndrome", "femoral hypoplasia-unusual facies syndrome", "femoral-facial syndrome", "femoral dysgenesis, bilateral", "femoral hypoplasia unusual facies syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies." }, "child_count": 0, "reference_id": "MONDO:0007604" }, { "id": 9037, "label": "multinodular goiter-cystic kidney-polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001671", "MEDGEN:333929", "MESH:C535986", "OMIM:138790", "Orphanet:2091", "SCTID:723409007", "UMLS:C1841853" ], "synonyms": [ "Daneman-Davy-Mancer syndrome", "thyroid-renal-digital anomalies", "Daneman Davy Mancer syndrome", "MNG/CRD/Da", "goiter, multinodular, cystic renal disease, and digital anomalies", "multinodular goiter - cystic kidney - polydactyly", "multinodular goiter, cystic renal disease, and digital anomalies", "multinodular goiter/cystic renal disease/digital anomalies", "multinodular goitre - cystic kidney - polydactyly" ], "definition": "Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." }, "child_count": 0, "reference_id": "MONDO:0007680" }, { "id": 9053, "label": "hand-foot-genital syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 6772, 16089, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060739", "GARD:0002594", "ICD9:759.89", "MEDGEN:331103", "MESH:C535627", "MedDRA:10072361", "OMIM:140000", "Orphanet:2438", "SCTID:702425002", "UMLS:C1841679" ], "synonyms": [ "HFGS", "hand-foot-genital syndrome", "hand-foot-uterus syndrome", "HFG", "HFG syndrome", "HFU syndrome", "hand foot genital syndrome", "hand foot uterus syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." }, "child_count": 0, "reference_id": "MONDO:0007698" }, { "id": 9065, "label": "Bencze syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002633", "MEDGEN:330655", "MESH:C564199", "OMIM:141350", "Orphanet:1241", "SCTID:733046006", "UMLS:C1841640" ], "synonyms": [ "Bencze syndrome", "hemifacial hyperplasia-strabismus syndrome", "hemifacial hyperplasia strabismus", "hemifacial hyperplasia with strabismus" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979." }, "child_count": 0, "reference_id": "MONDO:0007711" }, { "id": 9066, "label": "oculoauriculovertebral spectrum with radial defects", "isLeaf": false, "isRoot": false, "parents": [ 5714, 16089, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003653", "MEDGEN:67392", "OMIM:141400", "Orphanet:2549", "SCTID:726722009", "UMLS:C0220681" ], "synonyms": [ "Moeschler-Clarren syndrome", "hemifacial microsomia-radial defects syndrome", "Goldenhar syndrome with ipsilateral radial defect", "Moeschler Clarren syndrome", "Oavs with radial defect", "hemifacial microsomia with radial defects", "microsomia hemifacial radial defects", "oculoauriculovertebral spectrum with radial defect" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported." }, "child_count": 3, "reference_id": "MONDO:0007712" }, { "id": 9084, "label": "Holt-Oram syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16089, 16946, 19479, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060468", "GARD:0006666", "ICD9:759.89", "MEDGEN:120524", "MESH:C535326", "MedDRA:10050469", "NCIT:C125592", "NORD:1248", "OMIM:142900", "Orphanet:392", "SCTID:19092004", "UMLS:C0265264", "icd11.foundation:1169240278" ], "synonyms": [ "atrio digital syndrome", "atrio-digital syndrome", "atriodigital dysplasia", "heart-hand syndrome", "HOLT-Oram syndrome", "HOS", "Holt Oram Syndrome", "Holt-Oram syndrome", "atriodigital dysplasia type 1", "heart-hand syndrome type 1", "Cardiac-limb syndrome", "HOS 1", "Hos1", "heart-hand syndrome, type 1", "ventriculo-radial syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." }, "child_count": 5, "reference_id": "MONDO:0007732" }, { "id": 9140, "label": "mullerian duct anomalies-limb anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002908", "MEDGEN:327078", "MESH:C537155", "OMIM:146160", "Orphanet:2491", "UMLS:C1840335" ], "synonyms": [ "Müllerian duct anomalies-limb anomalies syndrome", "hypomelia mullerian duct anomalies", "hypomelia with mullerian duct anomalies", "limb uterus syndrome", "limb-uterus syndrome", "severe upper limb hypoplasia and Mullerian duct anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007795" }, { "id": 9175, "label": "Aase-Smith syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16089, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005642", "MEDGEN:66316", "MESH:C535332", "MedDRA:10063429", "OMIM:147800", "Orphanet:916", "SCTID:718576001", "UMLS:C0220686" ], "synonyms": [ "Aase-Smith I syndrome", "Aase-Smith syndrome", "Aase-Smith syndrome type 1", "hydrocephalus-cleft palate-joint contractures syndrome", "Aase-Smith syndrome 1", "Aase-Smith syndrome I", "Joint contractures with Other abnormalities" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures." }, "child_count": 0, "reference_id": "MONDO:0007839" }, { "id": 9208, "label": "LADD syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16089, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050331", "DOID:0081370", "GARD:0006848", "ICD9:759.89", "MEDGEN:78545", "MESH:C538132", "NORD:1345", "OMIMPS:149730", "Orphanet:2363", "SCTID:23817003", "UMLS:C0265269" ], "synonyms": [ "LACRIMOAURICULODENTODIGITAL syndrome", "LADD syndrome", "Lacrimo-auriculo-dento-digital syndrome", "Lacrimoauriculodento-digital syndrome", "Lacrimoauriculoradiodental syndrome", "Levy Hollister syndrome", "Levy-Hollister syndrome", "lacrimoauriculodentodigital syndrome", "lard syndrome", "LADD" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations." }, "child_count": 9, "reference_id": "MONDO:0007872" }, { "id": 9228, "label": "Noonan syndrome with multiple lentigines", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 16089, 19780 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14291", "GARD:0001100", "ICD9:709.09", "MEDGEN:104494", "MESH:D044542", "MedDRA:10062901", "NCIT:C84820", "NORD:1360", "OMIMPS:151100", "Orphanet:500", "SCTID:111306001", "UMLS:C0175704", "icd11.foundation:939197023" ], "synonyms": [ "Cardiomyopathic lentiginosis", "LEOPARD syndrome", "Noonan syndrome with multiple lentigines", "familial multiple lentigines syndrome", "generalised lentiginosis", "lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness", "Moynahan syndrome", "lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features." }, "child_count": 12, "reference_id": "MONDO:0007893" }, { "id": 9237, "label": "median nodule of the upper lip", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003440", "MEDGEN:372034", "OMIM:151630", "Orphanet:2699", "SCTID:722034006", "UMLS:C1835396" ], "synonyms": [ "LIP, MEDIAN NODULE of upper" ], "definition": "Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." }, "child_count": 0, "reference_id": "MONDO:0007904" }, { "id": 9273, "label": "Nager acrofacial dysostosis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 25067 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5768", "GARD:0000498", "MEDGEN:120519", "MESH:C538184", "NORD:1487", "OMIM:154400", "Orphanet:245", "SCTID:35520007", "UMLS:C0265245" ], "synonyms": [ "NAFD", "Nager Syndrome", "Nager acrofacial dysostosis", "Nager acrofacial dysostosis syndrome", "Nager syndrome", "acrofacial dysostosis 1, Nager type", "mandibulofacial dysostosis with preaxial limb anomalies", "preaxial acrodysostosis", "AFD", "AFD, Nager type", "AFD1", "mandibulofacial dysostosis, Treacher Collins type, with limb anomalies", "preaxial acrofacial dysostosis", "preaxial manibulofacial dysostosis", "split hand deformity-mandibulofacial dysostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." }, "child_count": 0, "reference_id": "MONDO:0007943" }, { "id": 9279, "label": "Marshall syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 16089, 17206, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111510", "GARD:0006984", "ICD9:759.89", "MEDGEN:82694", "MESH:C536025", "NCIT:C128115", "NORD:1407", "OMIM:154780", "Orphanet:560", "SCTID:33410002", "UMLS:C0265235", "icd11.foundation:1401051186" ], "synonyms": [ "Marshall syndrome", "MRSHS", "deafness, myopia, cataract, saddle nose-Marshall type" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis." }, "child_count": 0, "reference_id": "MONDO:0007949" }, { "id": 9283, "label": "Binder syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4349, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14683", "GARD:0006992", "MEDGEN:66318", "MESH:C536036", "OMIM:155050", "Orphanet:1248", "SCTID:715985008", "UMLS:C0220692" ], "synonyms": [ "Binder syndrome", "Maxillonasal dysostosis", "binder syndrome", "MAXILLONASAL dysplasia, BINDER type", "maxillonasal dysplasia" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex." }, "child_count": 0, "reference_id": "MONDO:0007953" }, { "id": 9429, "label": "Schilbach-Rott syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002930", "MEDGEN:371716", "MESH:C563509", "OMIM:164220", "Orphanet:2353", "SCTID:721902002", "UMLS:C1834038" ], "synonyms": [ "BRSS", "Schilbach-Rott syndrome", "hypotelorism-cleft palate-hypospadias syndrome", "blepharofacioskeletal syndrome", "cleft palate, hypotelorism, and hypospadias", "hypotelorism cleft palate hypospadias", "ocular hypotelorism, submucosal cleft palate, and hypospadias" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males." }, "child_count": 0, "reference_id": "MONDO:0008113" }, { "id": 9493, "label": "nasopalpebral lipoma-coloboma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003927", "MEDGEN:358378", "MESH:C538338", "OMIM:167730", "Orphanet:2399", "SCTID:723411003", "UMLS:C1868660" ], "synonyms": [ "nasopalpebral lipoma-coloboma syndrome", "NASOPALPEBRAL lipoma-coloboma syndrome", "NPLCS", "Nasopalpebral lipoma coloboma syndrome", "palpebral coloboma lipoma syndrome", "palpebral coloboma-lipoma syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus." }, "child_count": 0, "reference_id": "MONDO:0008182" }, { "id": 9618, "label": "autosomal dominant prognathism", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010319", "MEDGEN:98316", "MESH:D008313", "OMIM:176700", "Orphanet:2964", "UMLS:C0399526" ], "synonyms": [ "'Habsburg jaw'", "'Hapsburg jaw'", "Habsburg jaw", "Hapsburg jaw", "prognathism mandibular", "prognathism, mandibular" ], "definition": "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion)." }, "child_count": 0, "reference_id": "MONDO:0008312" }, { "id": 9639, "label": "short stature-craniofacial anomalies-genital hypoplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002605", "MEDGEN:357988", "MESH:C535844", "OMIM:177980", "Orphanet:2994", "SCTID:716090004", "UMLS:C1867443" ], "synonyms": [ "Haspeslagh-Fryns-Muelenaere syndrome", "Haspeslagh syndrome", "pterygia intellectual disability facial dysmorphism", "pterygia mental retardation facial dysmorphism", "pterygia, intellectual disability and distinctive craniofacial features", "pterygia, intellectual disability, and distinctive craniofacial features", "pterygia, mental retardation and distinctive craniofacial features", "pterygia, mental retardation, and distinctive craniofacial features" ], "definition": "Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p." }, "child_count": 0, "reference_id": "MONDO:0008335" }, { "id": 9658, "label": "radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000258", "MEDGEN:357271", "MESH:C536262", "OMIM:179250", "Orphanet:2252", "SCTID:716092007", "UMLS:C1867397" ], "synonyms": [ "Schmitt Gillenwater Kelly syndrome", "Schmitt-Gillenwater-Kelly syndrome", "radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema", "radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema", "radial hypoplasia, triphalangeal thumbs and hypospadias" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait." }, "child_count": 0, "reference_id": "MONDO:0008357" }, { "id": 9703, "label": "scalp-ear-nipple syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 19138, 19143 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111550", "GARD:0000159", "MEDGEN:357183", "MESH:C536623", "OMIM:181270", "Orphanet:2036", "SCTID:721888002", "UMLS:C1867020", "icd11.foundation:88843032" ], "synonyms": [ "Finlay-Marks syndrome", "scalp-ear-nipple syndrome", "SENS", "Sen syndrome", "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples", "scalp ear nipple syndrome", "scalp-EAR-nipple syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0008404" }, { "id": 9716, "label": "flat face-microstomia-ear anomaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004873", "MEDGEN:356655", "MESH:C537339", "OMIM:182150", "Orphanet:1968", "UMLS:C1866962" ], "synonyms": [ "Simosa-Penchaszadeh-Bustos syndrome", "blepharophimosis-telecanthus-microstomia syndrome", "SIMOSA craniofacial syndrome", "Simosa cranio facial syndrome" ], "definition": "Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994." }, "child_count": 0, "reference_id": "MONDO:0008421" }, { "id": 9759, "label": "Czeizel-Losonci syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004969", "MEDGEN:401071", "MESH:C566662", "OMIM:183802", "Orphanet:2437", "UMLS:C1866739" ], "synonyms": [ "split hand with obstructive uropathy, spina bifida and diaphragmatic defects", "split hand-urinary anomalies-spina bifida syndrome", "split hand urinary anomalies spina bifida", "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987." }, "child_count": 0, "reference_id": "MONDO:0008467" }, { "id": 9781, "label": "otospondylomegaepiphyseal dysplasia, autosomal dominant", "isLeaf": true, "isRoot": false, "parents": [ 10233, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080677", "DOID:4258", "GARD:0005021", "MEDGEN:341234", "MESH:C535776", "MESH:C537494", "NORD:1533", "OMIM:184840", "OMIM:277610", "Orphanet:166100", "Orphanet:3450", "SCTID:699313003", "UMLS:C1848488" ], "synonyms": [ "COL11A2 Stickler syndrome", "OSMED, Heterozygous", "OSMED, heterozygous", "OSMEDA", "Pierre Robin sequence-fetal chondrodysplasia syndrome", "Pierre Robin syndrome with fetal chondrodysplasia", "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type", "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly", "Pierre Robin syndrome with foetal chondrodysplasia", "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type", "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly", "Pierre Robin syndrome-fetal chondrodysplasia syndrome", "STICKLER syndrome, type III", "STL3", "Stickler syndrome caused by mutation in COL11A2", "Stickler syndrome, non-ocular type", "Stickler syndrome, type 3", "Stickler syndrome, type III, formerly", "WZS", "Weissenbacher-Zweymuller syndrome", "heterozygous OSMED", "heterozygous otospondylomegaepiphyseal dysplasia", "otospondylomegaepiphyseal dysplasia, autosomal dominant", "Stickler syndrome nonocular type", "Stickler syndrome, Nonocular type", "Weissenbacher- Zweymuller syndrome", "Weissenbacher-Zweymüller syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities." }, "child_count": 0, "reference_id": "MONDO:0008490" }, { "id": 9927, "label": "ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005472", "MEDGEN:395493", "MESH:C537497", "OMIM:192445", "Orphanet:3201", "SCTID:719823007", "UMLS:C1860471" ], "synonyms": [ "Stoll-Kieny-Dott syndrome", "ventricular extrasystoles perodactyly Robin sequence", "ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence", "ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence" ], "definition": "This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence." }, "child_count": 0, "reference_id": "MONDO:0008645" }, { "id": 9931, "label": "posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002276", "MEDGEN:348108", "MESH:C536344", "OMIM:192800", "Orphanet:2064", "SCTID:724064004", "UMLS:C1860464" ], "synonyms": [ "Faulk-Epstein-Jones syndrome", "Faulk Epstein Jones syndrome", "congenital ptosis and posterior fusion of lumbosacral vertebrae", "familial posterior lumbosacral vertebral fusion and eyelid ptosis", "vertebral fusion posterior lumbosacral blepharoptosis", "vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters." }, "child_count": 0, "reference_id": "MONDO:0008650" }, { "id": 9950, "label": "acrofacial dysostosis, Weyers type", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18363, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111571", "GARD:0000497", "ICD9:520.8", "MEDGEN:141594", "MESH:C536695", "OMIM:193530", "Orphanet:952", "SCTID:277807007", "UMLS:C0457013", "icd11.foundation:547338814" ], "synonyms": [ "Weyers acrodental dysostosis", "Weyers acrofacial dysostosis", "curry-Hall syndrome", "acrodental dysostosis of Weyers", "acrofacial dysostosis of Weyers", "curry Hall syndrome", "wad" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner." }, "child_count": 0, "reference_id": "MONDO:0008673" }, { "id": 9951, "label": "Freeman-Sheldon syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4427, 10051, 16089, 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111604", "DOID:0111605", "GARD:0006466", "MEDGEN:120516", "MESH:C535483", "NCIT:C98931", "NORD:1161", "OMIM:193700", "Orphanet:2053", "SCTID:52616002", "UMLS:C0265224", "icd11.foundation:1314169421" ], "synonyms": [ "Craniocarpotarsal dysplasia", "Craniocarpotarsal dystrophy", "Freeman Sheldon Syndrome", "Freeman Sheldon syndrome", "Freeman-Sheldon syndrome", "arthrogryposis, distal, type 2A (Freeman-Sheldon)", "cranio-carpo-tarsal syndrome", "craniocarpotarsal dysplasia", "craniocarpotarsal dystrophy", "distal arthrogryposis type 2A", "whistling face syndrome", "whistling face-windmill vane hand syndrome", "whistling-face syndrome", "windmill-vane-hand syndrome", "DA2A", "FSS", "arthrogryposis distal type 2A", "arthrogryposis, distal, type 2A" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis." }, "child_count": 5, "reference_id": "MONDO:0008675" }, { "id": 9979, "label": "Ackerman syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000469", "MEDGEN:395426", "MESH:C538170", "OMIM:200970", "Orphanet:2561", "SCTID:722280000", "UMLS:C1860167", "icd11.foundation:1946127088" ], "synonyms": [ "Ackerman fused molar rooth syndrome", "Ackerman syndrome", "pyramidal molar-glaucoma-upper abnormal lip syndrome", "glaucoma, juvenile, with unusual upper lip and dental roots", "juvenile glaucoma with unusual upper lip and dental roots", "molar roots, pyramidal, with juvenile glaucoma and unusual upper lip", "pyramidal molars, glaucoma, abnormal upper lip" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers." }, "child_count": 0, "reference_id": "MONDO:0008706" }, { "id": 9980, "label": "acro-renal-mandibular syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000480", "MEDGEN:395425", "MESH:C535665", "OMIM:200980", "Orphanet:958", "SCTID:720414005", "UMLS:C1860166", "icd11.foundation:879242648" ], "synonyms": [ "split hand/split foot-mandibular hypoplasia syndrome", "acro-renal-uterine-mandibular syndrome", "acrorenal mandibular syndrome", "acrorenal-mandibular syndrome", "acrorenal-uterine-mandibular syndrome", "split hand split foot mandibular hypoplasia", "split-hand and split-foot with mandibular hypoplasia" ], "definition": "Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested." }, "child_count": 0, "reference_id": "MONDO:0008707" }, { "id": 9985, "label": "acrocraniofacial dysostosis", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18363 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003075", "MEDGEN:349738", "MESH:C536892", "OMIM:201050", "Orphanet:949", "SCTID:720418008", "UMLS:C1860145" ], "synonyms": [ "Kaplan-Plauchu-Fitch syndrome", "acrocraniofacial dysostosis", "Kaplan Plauchu Fitch syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988." }, "child_count": 0, "reference_id": "MONDO:0008712" }, { "id": 10014, "label": "PAGOD syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003086", "MEDGEN:347985", "MESH:C537018", "OMIM:202660", "Orphanet:991", "SCTID:722132007", "UMLS:C1859967" ], "synonyms": [ "PAGOD syndrome", "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome", "Kennerknecht sorgo Oberhoffer syndrome", "agonadism with multiple internal malformations", "pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." }, "child_count": 0, "reference_id": "MONDO:0008741" }, { "id": 10017, "label": "alar cartilages hypoplasia-coloboma-telecanthus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000588", "MEDGEN:348504", "MESH:C535967", "OMIM:203000", "Orphanet:2007", "UMLS:C1859964" ], "synonyms": [ "alar-nasal cartilages, coloboma of, with telecanthus", "coloboma of alar-nasal cartilages with telecanthus", "frontonasal dysplasia with alar clefts" ], "definition": "Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976." }, "child_count": 0, "reference_id": "MONDO:0008744" }, { "id": 10023, "label": "microcephaly-albinism-digital anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003604", "MEDGEN:395372", "MESH:C537322", "OMIM:203340", "Orphanet:2513", "SCTID:719377004", "UMLS:C1859910" ], "synonyms": [ "Castro Gago-Pombo-Novo syndrome", "microcephaly-albinism-digital anomalies syndrome", "albinism-microcephaly digital anomalies syndrome", "albinism-microcephaly-digital anomalies syndrome" ], "definition": "Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." }, "child_count": 0, "reference_id": "MONDO:0008750" }, { "id": 10091, "label": "fetal akinesia deformation sequence", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16089, 16094, 16618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111375", "GARD:0009634", "ICD9:754.89", "MESH:C536647", "NCIT:C129071", "OMIMPS:208150", "SCTID:401138005" ], "synonyms": [ "FADS", "fetal akinesia deformation sequence", "arthrogryposis multiplex congenita with pulmonary hypoplasia", "fetal akinesia sequence", "foetal akinesia sequence" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes." }, "child_count": 20, "reference_id": "MONDO:0008824" }, { "id": 10117, "label": "Cooper-Jabs syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016567", "MEDGEN:347912", "MESH:C565923", "OMIM:209770", "Orphanet:1488", "SCTID:720748007", "UMLS:C1859591" ], "synonyms": [ "aural atresia-multiple congenital anomalies-intellectual disability syndrome", "aural atresia, multiple congenital anomalies, and intellectual disability", "aural atresia, multiple congenital anomalies, and mental retardation" ], "definition": "Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0008850" }, { "id": 10118, "label": "Barber-Say syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3562, 16089, 19138, 19755 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060549", "GARD:0000819", "MEDGEN:230818", "MESH:C537908", "NORD:875", "OMIM:209885", "Orphanet:1231", "SCTID:408537003", "UMLS:C1319466", "icd11.foundation:37248895" ], "synonyms": [ "Barber-Say syndrome", "Brown Séquard Syndrome", "hypertrichosis-atrophic skin-ectropion-macrostomia syndrome", "BARBER-SAY syndrome", "BBRSAY", "Barber Say syndrome", "Bss", "hypertrichosis atrophic skin ectropion macrostomia", "hypertrichosis, atrophic skin, ectropion, and macrostomia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." }, "child_count": 0, "reference_id": "MONDO:0008853" }, { "id": 10122, "label": "Beemer-Ertbruggen syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000846", "MEDGEN:347174", "MESH:C537668", "OMIM:209970", "Orphanet:1237", "SCTID:717859007", "UMLS:C1859526" ], "synonyms": [ "lethal hydrocephalus-cardiac malformation-dense bones syndrome", "Beemer Ertbruggen syndrome", "Beemer lethal malformation syndrome", "hydrocephalus, Cardiac malformation, dense bones, etc.", "hydrocephalus, cardiac malformation, dense bones, etc", "peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome" ], "definition": "Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984." }, "child_count": 0, "reference_id": "MONDO:0008857" }, { "id": 10140, "label": "blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000905", "MEDGEN:347880", "MESH:C536235", "OMIM:210745", "Orphanet:2057", "SCTID:717914000", "UMLS:C1859432" ], "synonyms": [ "Frydman-Cohen-Karmon syndrome", "Frydman Cohen Karmon syndrome", "blepharophimosis - ptosis - esotropia - syndactyly - short stature", "blepharophimosis with ptosis, syndactyly, and short stature" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0008875" }, { "id": 10162, "label": "camptodactyly syndrome, Guadalajara type 1", "isLeaf": true, "isRoot": false, "parents": [ 2728, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001067", "MEDGEN:395241", "MESH:C537970", "OMIM:211910", "Orphanet:1327", "SCTID:720602007", "UMLS:C1859359" ], "synonyms": [ "FTSS", "GCS 1", "GCS1", "camptodactyly syndrome Guadalajara type 1", "camptodactyly syndrome, Guadalajara, type 1", "camptodactyly syndrome, Guadalajara, type I", "faciothoracoskeletal syndrome" ], "definition": "Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." }, "child_count": 0, "reference_id": "MONDO:0008898" }, { "id": 10163, "label": "camptodactyly syndrome, Guadalajara type 2", "isLeaf": true, "isRoot": false, "parents": [ 2728, 16089, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001068", "MEDGEN:419870", "MESH:C567138", "OMIM:211920", "Orphanet:1326", "SCTID:720603002", "UMLS:C2931680" ], "synonyms": [ "Guadalajara camptodactyly syndrome type II", "camptodactyly syndrome Guadalajara type 2", "camptodactyly syndrome, Guadalajara, type 2", "camptodactyly syndrome, Guadalajara, type II" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985." }, "child_count": 0, "reference_id": "MONDO:0008899" }, { "id": 10180, "label": "heart defects-limb shortening syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7116, 7611, 16089, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002613", "MEDGEN:349142", "MESH:C535850", "OMIM:212135", "Orphanet:1354", "SCTID:721009008", "UMLS:C1859327" ], "synonyms": [ "heart defect and limb shortening syndrome", "cardioskeletal syndrome kuwaiti type", "cardioskeletal syndrome, KUWAITI type", "heart defects and limb shortening" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome." }, "child_count": 0, "reference_id": "MONDO:0008917" }, { "id": 10248, "label": "Verloove Vanhorick-Brubakk syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005482", "MEDGEN:395171", "MESH:C536541", "OMIM:215850", "Orphanet:3429", "SCTID:764697003", "UMLS:C1859082" ], "synonyms": [ "cleft lip-limb and heart malformations syndrome", "cleft-limb-heart malformation syndrome syndrome", "Clh syndrome", "Verloove Vanhorick Brubakk syndrome", "cleft limb heart malformation syndrome", "cleft-limb-heart malformation syndrome" ], "definition": "Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981." }, "child_count": 0, "reference_id": "MONDO:0008991" }, { "id": 10249, "label": "Juberg-Hayward syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003060", "MEDGEN:162906", "MESH:C537690", "NORD:1531", "OMIM:216100", "Orphanet:2319", "SCTID:721874001", "UMLS:C0796099", "icd11.foundation:395922030" ], "synonyms": [ "Juberg-Hayward syndrome", "Orocraniodigital Syndrome", "Orocraniodigital syndrome", "cleft lip/palate-abnormal thumbs-microcephaly syndrome", "JHS", "cleft LIP/palate with abnormal thumbs and microcephaly" ], "definition": "Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0008992" }, { "id": 10262, "label": "heart defect - tongue hamartoma - polysyndactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 24751 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111591", "GARD:0004166", "MEDGEN:341804", "MESH:C535849", "OMIM:217085", "Orphanet:1338", "UMLS:C1857587" ], "synonyms": [ "Ostravik-Lindemann-Solberg syndrome", "heart defect - tongue hamartoma - polysyndactyly syndrome", "CHDTHP", "Orstavik Lindemann Solberg syndrome", "congenital heart defects, hamartomas of tongue, and polysyndactyly", "heart defect, tongue hamartoma and polysyndactyly" ] }, "child_count": 0, "reference_id": "MONDO:0009008" }, { "id": 10297, "label": "Fraser syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611, 16089, 19754 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090001", "GARD:0006465", "MEDGEN:82692", "MESH:D058497", "NCIT:C118436", "NORD:1160", "OMIMPS:219000", "Orphanet:2052", "SCTID:204102004", "UMLS:C0265233", "icd11.foundation:968262849" ], "synonyms": [ "Fraser syndrome", "cryptophthalmos-syndactyly syndrome", "Fraser-Francois syndrome", "Meyer-Schwickerath's syndrome", "Ulrich-Feichtiger syndrome", "cryptophthalmos syndrome", "cryptophthalmos with Other malformations", "cyclopism" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly." }, "child_count": 12, "reference_id": "MONDO:0009046" }, { "id": 10328, "label": "split hand-foot malformation 1 with sensorineural hearing loss", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18360, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090024", "GARD:0016686", "MEDGEN:347431", "MESH:C565647", "OMIM:220600", "Orphanet:71271", "SCTID:723611008", "UMLS:C1857344" ], "synonyms": [ "SHFM1D", "split hand-foot malformation 1 with sensorineural hearing loss", "split-hand/foot malformation 1 with sensorineural hearing loss", "deafness, congenital, with split hands and feet", "split hand-split foot-deafness syndrome", "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0009080" }, { "id": 10366, "label": "von Voss-Cherstvoy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001894", "MEDGEN:341728", "MESH:C565618", "OMIM:223340", "Orphanet:3439", "SCTID:719021005", "UMLS:C1857226" ], "synonyms": [ "DK phocomelia syndrome", "phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome", "von Voss-Cherstvoy syndrome", "Von Voss Cherstvoy syndrome", "phocomelia thrombocytopenia encephalocele and urogenital malformations", "phocomelia, thrombocytopenia, encephalocele, urogenital malformations" ], "definition": "Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." }, "child_count": 0, "reference_id": "MONDO:0009121" }, { "id": 10452, "label": "autosomal recessive faciodigitogenital syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 16089, 20261 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005124", "MEDGEN:341637", "OMIM:227330", "Orphanet:1974", "UMLS:C1856871" ], "synonyms": [ "Aarskog-like syndrome", "Teebi-Naguib-Alawadi syndrome", "facio-digito-genital syndrome, Kuwait type", "Kuwait type faciodigitogenital syndrome", "faciodigitogenital syndrome, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." }, "child_count": 0, "reference_id": "MONDO:0009209" }, { "id": 10471, "label": "gingival fibromatosis-facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010528", "MEDGEN:346437", "MESH:C565567", "OMIM:228560", "Orphanet:2025", "UMLS:C1856761" ], "synonyms": [ "fibromatosis, gingival, with distinctive facies", "gingival fibromatosis with craniofacial dysmorphism", "gingival fibromatosis with distinctive facies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0009228" }, { "id": 10476, "label": "Fibulo-ulnar hypoplasia-renal anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000320", "MEDGEN:383972", "MESH:C537226", "OMIM:228940", "Orphanet:2256", "SCTID:716094008", "UMLS:C1856727" ], "synonyms": [ "Saito-Kuba-Tsuruta syndrome", "FIBULOULNAR aplasia or hypoplasia with renal abnormalities", "Fibulo ulnar hypoplasia renal anomalies", "Saito Kuba Tsuruta syndrome" ], "definition": "Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0009233" }, { "id": 10489, "label": "frontofacionasal dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 17114 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002390", "MEDGEN:444125", "MESH:C538063", "NORD:1164", "OMIM:229400", "Orphanet:1791", "SCTID:716022002", "UMLS:C2931720" ], "synonyms": [ "Gollop syndrome", "frontofacionasal dysplasia", "Ffnd", "Frontofacionasal dysostosis", "fronto-facio-nasal dyplasia", "fronto-facio-nasal dysostosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)." }, "child_count": 0, "reference_id": "MONDO:0009247" }, { "id": 10511, "label": "genito-palato-cardiac syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6875, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002460", "MEDGEN:341558", "MESH:C537683", "OMIM:231060", "Orphanet:2075", "UMLS:C1856466", "icd11.foundation:2011995320" ], "synonyms": [ "Gardner-Silengo-Wachtel syndrome", "GENITOPALATOCARDIAC syndrome", "Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect", "genito palato cardiac syndrome" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies." }, "child_count": 0, "reference_id": "MONDO:0009270" }, { "id": 10574, "label": "Hirschsprung disease-hearing loss-polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 20415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000157", "MEDGEN:341066", "MESH:C565518", "OMIM:235740", "Orphanet:2155", "SCTID:721221000", "UMLS:C1856112" ], "synonyms": [ "Santos-Mateus-Leal syndrome", "Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness", "Hirschsprung disease with polydactyly, renal agenesis, and deafness", "Hirschsprung disease, deafness and polydactyly", "Hirschsprung disease-deafness-polydactyly syndrome", "Santos Mateus Leal syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988." }, "child_count": 0, "reference_id": "MONDO:0009342" }, { "id": 10582, "label": "Holzgreve-Wagner-Rehder syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060566", "GARD:0002728", "MEDGEN:344650", "MESH:C535327", "OMIM:236110", "Orphanet:2167", "UMLS:C1856095" ], "synonyms": [ "Holzgreve syndrome", "cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome", "Complex congenital heart defect, renal agenesis and cleft lip and palate" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects." }, "child_count": 0, "reference_id": "MONDO:0009350" }, { "id": 10595, "label": "hydrocephaly-tall stature-joint laxity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001666", "MEDGEN:383828", "MESH:C535770", "OMIM:236660", "Orphanet:2181", "SCTID:732926009", "UMLS:C1856051" ], "synonyms": [ "Daish-Hardman-Lamont syndrome", "Daish Hardman Lamont syndrome", "hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis", "hydrocephalus, tall stature, joint laxity and kyphoscoliosis", "hydrocephaly - tall stature - joint laxity" ], "definition": "Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989." }, "child_count": 0, "reference_id": "MONDO:0009363" }, { "id": 10599, "label": "McKusick-Kaufman syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 29280 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111255", "GARD:0003427", "ICD9:758.89", "MEDGEN:184924", "MESH:C538159", "MedDRA:10052312", "OMIM:236700", "Orphanet:2473", "SCTID:702407009", "UMLS:C0948368" ], "synonyms": [ "Kaufman-Mckusick syndrome", "McKusick-Kaufman syndrome", "hydrometrocolpos-postaxial polydactyly syndrome", "HMCS", "Kaufman McKusick syndrome", "MCKUSICK-Kaufman syndrome", "MKKS", "McKusick Kaufman syndrome", "hydrometrocolpos syndrome", "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation" ], "definition": "McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations." }, "child_count": 0, "reference_id": "MONDO:0009367" }, { "id": 10634, "label": "acrofrontofacionasal dysostosis 2", "isLeaf": true, "isRoot": false, "parents": [ 4370, 9988, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000287", "MEDGEN:383797", "MESH:C538332", "OMIM:239710", "Orphanet:2211", "SCTID:721835008", "UMLS:C1855904" ], "synonyms": [ "Naguib-Richieri-Costa syndrome", "acrofrontofacionasal dysostosis 2", "acrofrontofacionasal dysostosis type 2", "acrofrontofacionasal syndrome type 2", "hypertelorism-hypospadias-polysyndactyly syndrome", "AFFN dysostosis 2", "Naguib syndrome", "acrofrontofacionasal dysostosis with genitourinary anomalies", "acrofrontofacionasal dysostosis, severe", "hypertelorism hypospadias polysyndactyly syndrome", "hypertelorism, hypospadias, and polysyndactyly syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." }, "child_count": 0, "reference_id": "MONDO:0009402" }, { "id": 10681, "label": "Vici syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6778, 7611, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060356", "GARD:0000448", "MEDGEN:340962", "MESH:C535566", "NCIT:C138174", "OMIM:242840", "Orphanet:1493", "SCTID:719824001", "UMLS:C1855772" ], "synonyms": [ "Dionisi-Vici-Sabetta-Gambarara syndrome", "Vici syndrome", "absent corpus callosum-cataract-immunodeficiency syndrome", "corpus callosum agenesis-cataract-immunodeficiency syndrome", "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum", "Dionisi Vici Sabetta Gambarara syndrome", "VICIS", "absent corpus callosum cataract immunodeficiency", "immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum", "immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." }, "child_count": 0, "reference_id": "MONDO:0009452" }, { "id": 10741, "label": "Donohue syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050470", "GARD:0006885", "ICD9:259.8", "MEDGEN:82708", "MESH:D056731", "NCIT:C84676", "NORD:1361", "OMIM:246200", "Orphanet:508", "SCTID:111307005", "UMLS:C0265344" ], "synonyms": [ "Donohue syndrome", "Leprechaunism", "leprechaunism", "insulin receptor, defect 1N" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation." }, "child_count": 0, "reference_id": "MONDO:0009517" }, { "id": 10756, "label": "Dahlberg-Borer-Newcomer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 19138, 19154 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000237", "MEDGEN:383693", "MESH:C535769", "OMIM:247410", "Orphanet:1563", "SCTID:721083007", "UMLS:C1855477", "icd11.foundation:1407652122" ], "synonyms": [ "Dahlberg syndrome", "lymphedema-hypoparathyroidism syndrome", "Dahlberg Borer Newcomer syndrome", "hypoparathyroidism lymphedema syndrome", "hypoparathyroidism-lymphedema syndrome", "lymphedema hypoparathyroidism syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." }, "child_count": 0, "reference_id": "MONDO:0009533" }, { "id": 10769, "label": "macrosomia-microphthalmia-cleft palate syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000177", "MEDGEN:340874", "MESH:C537830", "OMIM:248110", "Orphanet:2432", "UMLS:C1855467" ], "synonyms": [ "Teebi-Al Saleh-Hassoon syndrome", "Teebi Al-Saleh Hassoon syndrome", "macrosomia microphthalmia cleft palate", "macrosomia with lethal microphthalmia", "macrosomia with microphthalmia, lethal" ], "definition": "Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989." }, "child_count": 0, "reference_id": "MONDO:0009547" }, { "id": 10809, "label": "mesomelic dwarfism-cleft palate-camptodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003552", "MEDGEN:340833", "MESH:C565404", "OMIM:249710", "Orphanet:2631", "SCTID:715471007", "UMLS:C1855273" ], "synonyms": [ "Reardon-Hall-Slaney syndrome", "mesomelic dysplasia, Kozlowski-Reardon type", "mesomelic dysplasia, Reardon type", "mesomelic dwarfism cleft palate camptodactyly", "mesomelic limb shortening and bowing" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009589" }, { "id": 10843, "label": "Nijmegen breakage syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 16089, 16198, 20416 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7400", "GARD:0003904", "MEDGEN:140771", "MESH:D049932", "MedDRA:10067857", "NANDO:1200332", "NANDO:2200706", "NCIT:C4692", "OMIM:251260", "Orphanet:647", "SCTID:234638009", "UMLS:C0398791", "icd11.foundation:1925662580" ], "synonyms": [ "AT V1", "Berlin breakage syndrome", "NBS", "NBs", "Nijmegen breakage syndrome", "Seemanova syndrome", "Seemanova syndrome type 2", "ataxia-telangiectasia, variant 1", "immunodeficiency-microcephaly-chromosomal instability syndrome", "Nonsyndromal microcephaly autosomal recessive with normal intelligence", "Nonsyndromal microcephaly, autosomal recessive, with normal intelligence", "Seemanova syndrome 2", "ataxia-telangiectasia variant V1", "ataxia-telangiectasia variant V2", "immunodeficiency, microcephaly, and chromosomal instability", "microcephaly immunodeficiency lymphoreticuloma", "microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies", "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies" ], "definition": "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." }, "child_count": 0, "reference_id": "MONDO:0009623" }, { "id": 10884, "label": "lethal congenital contracture syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 16618, 17730 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060559", "GARD:0003227", "MEDGEN:344338", "MESH:C537194", "OMIM:253310", "Orphanet:1486", "SCTID:715418007", "UMLS:C1854664" ], "synonyms": [ "GLE1 lethal congenital contracture syndrome", "Herva disease", "LCCS1", "lethal congenital contracture syndrome 1", "lethal congenital contracture syndrome caused by mutation in GLE1", "lethal congenital contracture syndrome type 1", "multiple contracture syndrome, Finnish type", "Lccs", "lethal autosomal recessive syndrome of multiple congenital contractures" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies." }, "child_count": 0, "reference_id": "MONDO:0009670" }, { "id": 10929, "label": "Richieri Costa-da Silva syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 17206 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004709", "MEDGEN:419686", "MESH:C535675", "OMIM:255710", "Orphanet:3101", "UMLS:C2930978" ], "synonyms": [ "myotonia-intellectual disability-skeletal anomalies syndrome", "Richieri Costa Da Silva syndrome", "myotonia with skeletal abnormalities and intellectual disability", "myotonia with skeletal abnormalities and mental retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009716" }, { "id": 10933, "label": "Keipert syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111842", "GARD:0000267", "MEDGEN:338088", "MESH:C538337", "NCIT:C186306", "OMIM:255980", "OMIM:301026", "Orphanet:2662", "SCTID:763774001", "UMLS:C1850627" ], "synonyms": [ "KPTS", "Keipert syndrome", "Keipert syndrome, X-linked recessive", "nasodigitoacoustic syndrome", "nasodigitoacoustic syndrome, formerly" ], "definition": "A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis." }, "child_count": 0, "reference_id": "MONDO:0009720" }, { "id": 10943, "label": "nephrosis-deafness-urinary tract-digital malformations syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003943", "MEDGEN:340568", "MESH:C536402", "OMIM:256200", "Orphanet:2669", "UMLS:C1850552" ], "synonyms": [ "Braun-Bayer syndrome", "nephrosis deafness urinary tract digital malformation", "nephrosis with deafness and urinary tract and digital malformations" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Nephrosis-deafness-urinary tract-digital malformations syndrome is characterized by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant." }, "child_count": 0, "reference_id": "MONDO:0009731" }, { "id": 11002, "label": "ichthyosis-oral and digital anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 16624 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002960", "MEDGEN:342457", "MESH:C536272", "OMIM:258840", "Orphanet:2272", "UMLS:C1850268" ], "synonyms": [ "Clayton Smith-Donnai syndrome", "ichthyosis tapered fingers midline groove up", "oral and digital anomalies with ichthyosis", "unusual facies, digital abnormalities, and ichthyosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009792" }, { "id": 11029, "label": "otoonychoperoneal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004170", "ICD9:759.89", "MEDGEN:376704", "MESH:C564912", "OMIM:259780", "Orphanet:2793", "SCTID:441944007", "UMLS:C1850105" ], "synonyms": [ "otoonychoperoneal syndrome", "oto-onycho-peroneal syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009822" }, { "id": 11062, "label": "PHAVER syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004465", "MEDGEN:376670", "MESH:C538357", "OMIM:261575", "Orphanet:2876", "SCTID:723453002", "UMLS:C1849928" ], "synonyms": [ "PHAVER syndrome", "Powell-Chandra-Saal syndrome", "pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects" ], "definition": "Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." }, "child_count": 0, "reference_id": "MONDO:0009859" }, { "id": 11103, "label": "polysyndactyly-cardiac malformation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004428", "MEDGEN:337895", "MESH:C564875", "OMIM:263630", "Orphanet:2934", "SCTID:724066002", "UMLS:C1849719" ], "synonyms": [ "Bonneau syndrome", "polysyndactyly cardiac malformation", "polysyndactyly with CARDIAC malformation" ], "definition": "Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts)." }, "child_count": 0, "reference_id": "MONDO:0009900" }, { "id": 11106, "label": "postaxial acrofacial dysostosis", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 18363 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111259", "GARD:0008410", "ICD9:759.89", "MEDGEN:120522", "MESH:C537680", "NORD:1448", "OMIM:263750", "Orphanet:246", "SCTID:66038001", "UMLS:C0265257", "icd11.foundation:70602060" ], "synonyms": [ "Miller Syndrome", "Miller syndrome", "POADS", "postaxial acrodysostosis", "postaxial acrofacial dysostosis", "GWAFD", "Genee-Wiedemann acrofacial dysostosis", "Genee-Wiedemann syndrome", "POADS syndrome", "Wildervanck-Smith syndrome", "postaxial acrofacial dysostosis (POADS) syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." }, "child_count": 0, "reference_id": "MONDO:0009903" }, { "id": 11129, "label": "autosomal recessive multiple pterygium syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7611, 16089, 17720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007111", "ICD9:759.89", "MEDGEN:82696", "NCIT:C101039", "OMIM:265000", "Orphanet:2990", "SCTID:80773006", "UMLS:C0265261", "icd11.foundation:1502158121" ], "synonyms": [ "EVMPS", "Escobar syndrome", "Escobar variant multiple pterygium syndrome", "autosomal recessive multiple pterygium syndrome", "autosomal recessive non-lethal multiple pterygium syndrome", "multiple pterygium syndrome, autosomal recessive", "multiple pterygium syndrome", "multiple pterygium syndrome Escobar type", "multiple pterygium syndrome nonlethal type", "multiple pterygium syndrome, ESCOBAR variant", "multiple pterygium syndrome, Nonlethal type", "pterygium Universale", "pterygium colli syndrome", "pterygium syndrome", "pterygium universale" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant." }, "child_count": 4, "reference_id": "MONDO:0009926" }, { "id": 11156, "label": "rapadilino syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 16089, 18362, 18956, 19479 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050774", "GARD:0004637", "ICD9:759.89", "MEDGEN:336602", "MESH:C535288", "NANDO:1201058", "OMIM:266280", "Orphanet:3021", "SCTID:702413000", "UMLS:C1849453", "icd11.foundation:1439614760" ], "synonyms": [ "rapadilino syndrome", "absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate", "radial and patellar aplasia", "radial and patellar hypoplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence." }, "child_count": 0, "reference_id": "MONDO:0009955" }, { "id": 11170, "label": "renal-genital-middle ear anomalies", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004664", "MEDGEN:341454", "MESH:C564849", "OMIM:267400", "Orphanet:1092", "UMLS:C1849432" ], "synonyms": [ "renal genital middle ear anomalies", "renal, genital, and middle EAR anomalies" ] }, "child_count": 0, "reference_id": "MONDO:0009969" }, { "id": 11193, "label": "Richieri Costa-Pereira syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18360 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004718", "MEDGEN:336581", "MESH:C535677", "OMIM:268305", "Orphanet:3102", "SCTID:723998001", "UMLS:C1849348", "icd11.foundation:107084177" ], "synonyms": [ "Richieri Costa-Pereira syndrome", "short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome", "short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome", "ROBIN sequence with cleft mandible and limb anomalies", "Richieri Costa Pereira syndrome", "Richieri-Costa and Pereira form of acrofacial dysostosis", "Richieri-Costa-Pereira syndrome", "short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009998" }, { "id": 11220, "label": "SHORT syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019, 16088, 16089, 16198, 19731, 29311 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111454", "GARD:0007633", "MEDGEN:164212", "MESH:C537327", "NORD:1710", "OMIM:269880", "Orphanet:3163", "UMLS:C0878684", "icd11.foundation:1264512044" ], "synonyms": [ "Aarskog-Ose-Pande syndrome", "Rieger anomaly-partial lipodystrophy syndrome", "SHORT syndrome", "lipodystrophy-Rieger anomaly-diabetes syndrome", "short syndrome", "lipodystrophy, partial, with Rieger anomaly and short stature", "partial lipodystrophy with Rieger anomaly and short stature", "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay", "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt." }, "child_count": 0, "reference_id": "MONDO:0010026" }, { "id": 11296, "label": "tetraamelia-multiple malformations syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 16089, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112191", "GARD:0000386", "MEDGEN:419746", "MESH:C536500", "OMIMPS:273395", "Orphanet:3301", "SCTID:716249009", "UMLS:C2931218" ], "synonyms": [ "Zimmer phocomelia", "TETAMS", "TETRAAMELIA syndrome, autosomal recessive", "Tetraamelia multiple malformations X-linked", "Zimmer Taub Sova syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." }, "child_count": 8, "reference_id": "MONDO:0010110" }, { "id": 11312, "label": "thymic-renal-anal-lung dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005202", "MEDGEN:336425", "MESH:C536907", "OMIM:274265", "Orphanet:3326", "SCTID:723555007", "UMLS:C1848812" ], "synonyms": [ "thymic-renal-anal-lung dysplasia", "syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)" ], "definition": "This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus." }, "child_count": 0, "reference_id": "MONDO:0010129" }, { "id": 11336, "label": "trigonocephaly-bifid nose-acral anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005126", "MEDGEN:341296", "MESH:C564759", "OMIM:275595", "Orphanet:3368", "UMLS:C1848743" ], "synonyms": [ "trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia", "trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet", "trigonocephaly - bifid nose - acral anomalies" ], "definition": "Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges." }, "child_count": 0, "reference_id": "MONDO:0010154" }, { "id": 11380, "label": "white forelock with malformations", "isLeaf": true, "isRoot": false, "parents": [ 6967, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010081", "MEDGEN:376362", "MESH:C536700", "OMIM:277740", "Orphanet:2475", "SCTID:763619009", "UMLS:C1848463" ], "synonyms": [ "white forelock with malformations" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980." }, "child_count": 0, "reference_id": "MONDO:0010199" }, { "id": 11569, "label": "syndactyly-telecanthus-anogenital and renal malformations syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 18956, 24804 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111931", "GARD:0010295", "MEDGEN:394424", "MESH:C567475", "OMIM:300707", "Orphanet:140952", "SCTID:723581006", "UMLS:C2678045" ], "synonyms": [ "STAR syndrome", "STAR syndrome, X-linked dominant", "syndactyly-telecanthus-anogenital and renal malformations syndrome", "STAR", "Star syndrome", "syndactyly with renal and anogenital malformations", "syndactyly, telecanthus, anogenital and renal malformations", "toe syndactyly, telecanthus, and anogenital and renal malformations", "toe syndactyly, telecanthus, anogenital and renal malformations" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." }, "child_count": 0, "reference_id": "MONDO:0010408" }, { "id": 11708, "label": "Abruzzo-Erickson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111826", "GARD:0000360", "MEDGEN:375529", "MESH:C535559", "OMIM:302905", "Orphanet:921", "SCTID:718574003", "UMLS:C1844862" ], "synonyms": [ "ABERS", "Abruzzo-Erickson syndrome", "CHARGE-like syndrome", "cleft palate-coloboma-deafness syndrome", "CHARGE like syndrome X-linked", "CHARGE-like syndrome, X-linked" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis." }, "child_count": 0, "reference_id": "MONDO:0010554" }, { "id": 11768, "label": "CHILD syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3036, 6801, 16089, 16607, 17598, 19104, 19476, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111822", "GARD:0006039", "ICD9:759.89", "MEDGEN:82697", "MESH:C562515", "NANDO:1200629", "NANDO:2200998", "NANDO:2201358", "NORD:1284", "OMIM:308050", "Orphanet:139", "SCTID:17608003", "UMLS:C0265267" ], "synonyms": [ "CHILD syndrome", "CHILD syndrome, X-linked dominant", "Ichthyosis, CHILD Syndrome", "child nevus", "child syndrome", "congenital hemidysplasia with ichthyosiform erythroderma and limb defects", "congenital hemidysplasia with ichthyosiform nevus and limb defects", "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs", "ichthyosis, child syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." }, "child_count": 0, "reference_id": "MONDO:0010621" }, { "id": 11882, "label": "pentalogy of Cantrell", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007359", "ICD9:759.89", "MEDGEN:107540", "MESH:D058502", "NCIT:C99011", "NORD:1566", "OMIM:313850", "Orphanet:1335", "SCTID:281587000", "UMLS:C0559483" ], "synonyms": [ "Cantrell deformity", "Cantrell syndrome", "pentalogy of Cantrell", "thoraco-abdominal syndrome", "Cantrell Haller Ravitsch syndrome", "Cantrell pentalogy", "Midline defects, X-linked", "THAS", "Tas", "thoracoabdominal syndrome" ], "definition": "Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC." }, "child_count": 0, "reference_id": "MONDO:0010742" }, { "id": 11961, "label": "atrioventricular defect-blepharophimosis-radial and anal defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6967, 16089, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002742", "MEDGEN:374010", "MESH:C563994", "OMIM:600123", "Orphanet:1352", "UMLS:C1838606" ], "synonyms": [ "Houlston-Ironton-Temple syndrome", "atrioventricular septal defect with blepharophimosis and anal and radial defects" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects." }, "child_count": 0, "reference_id": "MONDO:0010825" }, { "id": 11990, "label": "short tarsus-absence of lower eyelashes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000296", "MEDGEN:325001", "MESH:C537036", "OMIM:600269", "Orphanet:2832", "SCTID:721075001", "UMLS:C1838328" ], "synonyms": [ "Lopes-Gorlin syndrome", "Lopes Gorlin syndrome", "short tarsus absence of lower eyelashes", "short tarsus with absence of LOWER eyelashes", "stale" ], "definition": "Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." }, "child_count": 0, "reference_id": "MONDO:0010855" }, { "id": 12001, "label": "PARC syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004223", "MEDGEN:373923", "MESH:C537174", "OMIM:600331", "Orphanet:2825", "UMLS:C1838256" ], "synonyms": [ "PARC syndrome", "poikiloderma-alopecia-retrognathism-cleft palate syndrome", "poikiloderma, alopecia, retrognathism, and cleft palate" ], "definition": "PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990." }, "child_count": 0, "reference_id": "MONDO:0010867" }, { "id": 12013, "label": "CODAS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 17206 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111274", "GARD:0001418", "MEDGEN:333031", "MESH:C536434", "NCIT:C126744", "OMIM:600373", "Orphanet:1458", "SCTID:717772000", "UMLS:C1838180" ], "synonyms": [ "CODAS syndrome", "cerebrooculodentoauriculoskeletal syndrome", "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome", "cerebral, ocular, dental, auricular, and skeletal syndrome", "cerebro-oculo-dento-auriculo-skeletal syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies." }, "child_count": 0, "reference_id": "MONDO:0010879" }, { "id": 12017, "label": "pectus excavatum-macrocephaly-dysplastic nails syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000374", "MEDGEN:373902", "MESH:C536728", "OMIM:600399", "Orphanet:2835", "SCTID:763863002", "UMLS:C1838160" ], "synonyms": [ "Zori-Stalker-Williams syndrome", "Zori Stalker Williams syndrome", "familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails", "pectus excavatum, macrocephaly and dysplastic nails", "pectus excavatum, macrocephaly, short stature, and dysplastic nails" ], "definition": "Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992." }, "child_count": 0, "reference_id": "MONDO:0010883" }, { "id": 12058, "label": "velo-facial-skeletal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005469", "MEDGEN:322177", "MESH:C536536", "OMIM:600736", "Orphanet:3424", "SCTID:763616002", "UMLS:C1833380" ], "synonyms": [ "VELOFACIOSKELETAL syndrome" ], "definition": "Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported." }, "child_count": 0, "reference_id": "MONDO:0010925" }, { "id": 12063, "label": "anophthalmia plus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000719", "MEDGEN:322166", "MESH:C537767", "OMIM:600776", "Orphanet:1104", "SCTID:720496006", "UMLS:C1833339" ], "synonyms": [ "Fryns microphthalmia syndrome", "microphthalmia with facial clefting", "Fryns anophthalmia syndrome", "Leichtman Wood Rohn syndrome", "anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder", "anophthalmia-plus syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested." }, "child_count": 0, "reference_id": "MONDO:0010930" }, { "id": 12088, "label": "van den Ende-Gupta syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 16094 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111699", "GARD:0003382", "MEDGEN:322127", "MESH:C535909", "OMIM:600920", "Orphanet:2460", "SCTID:719845008", "UMLS:C1833136", "icd11.foundation:1740735985" ], "synonyms": [ "Marden-Walker-like syndrome", "VDEGS", "van den Ende-Gupta syndrome", "Marden Walker like syndrome", "Marden Walker like syndrome without psychomotor retardation", "Marden-Walker-like syndrome without psychomotor retardation", "VAN DEN Ende-Gupta syndrome", "Van den Ende Gupta syndrome", "blepharophimosis, arachnodactyly, and congenital contractures" ], "definition": "Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." }, "child_count": 0, "reference_id": "MONDO:0010959" }, { "id": 12109, "label": "absent tibia-polydactyly-arachnoid cyst syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005210", "MEDGEN:318725", "MESH:C563403", "OMIM:601027", "Orphanet:3328", "SCTID:733068001", "UMLS:C1832859" ], "synonyms": [ "Holmes-Collins syndrome", "Holmes Collins syndrome", "absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies", "tibia absent polydactyly arachnoid cyst", "tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies", "tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." }, "child_count": 0, "reference_id": "MONDO:0010981" }, { "id": 12133, "label": "diaphragmatic defect-limb deficiency-skull defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002397", "MEDGEN:371377", "MESH:C563380", "OMIM:601163", "Orphanet:2141", "SCTID:721095007", "UMLS:C1832668" ], "synonyms": [ "froster-Huch syndrome", "diaphragmatic defect limb deficiency skull defect", "diaphragmatic defects, limb deficiencies, and ossification defects of skull", "froster syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four fetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies." }, "child_count": 0, "reference_id": "MONDO:0011007" }, { "id": 12134, "label": "cleft lip/palate-intestinal malrotation-cardiopathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003430", "MEDGEN:444135", "MESH:C538160", "OMIM:601165", "Orphanet:2001", "SCTID:719456001", "UMLS:C2931750" ], "synonyms": [ "McPherson-Clemens syndrome", "McPherson Clemens syndrome", "cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease", "cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease" ], "definition": "Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997." }, "child_count": 0, "reference_id": "MONDO:0011008" }, { "id": 12136, "label": "Matthew-Wood syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 16618, 16704 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050819", "DOID:0111807", "GARD:0000713", "MEDGEN:318679", "MESH:C537768", "OMIM:601186", "Orphanet:2470", "SCTID:722458000", "UMLS:C1832661" ], "synonyms": [ "MCOPS9", "Matthew-Wood syndrome", "anophthalmia-pulmonary hypoplasia syndrome", "microphthalmia syndromic type 9", "microphthalmia, syndromic type 9", "syndromic microphthalmia type 9", "Matthew Wood syndrome", "anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm", "anophthalmia/microphthalmia and pulmonary hypoplasia", "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations", "microphthalmia syndromic 9", "microphthalmia, isolated, with coloboma 8", "microphthalmia, syndromic 9", "pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect", "pulmonary agenesis microphthalmi and diaphragmatic defect", "pulmonary agenesis, microphthalmia, and diaphragmatic defect", "spear syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia." }, "child_count": 0, "reference_id": "MONDO:0011010" }, { "id": 12176, "label": "microcephaly-cardiac defect-lung malsegmentation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6967, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002098", "MEDGEN:371329", "MESH:C563341", "OMIM:601355", "Orphanet:2516", "SCTID:719379001", "UMLS:C1832436" ], "synonyms": [ "Ellis-Yale-Winter syndrome", "Ellis Yale Winter syndrome", "microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis", "microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." }, "child_count": 0, "reference_id": "MONDO:0011050" }, { "id": 12207, "label": "dislocation of the hip-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001428", "MEDGEN:316970", "MESH:C563315", "OMIM:601450", "Orphanet:2412", "SCTID:763755009", "UMLS:C1832353" ], "synonyms": [ "Collins-Pope syndrome", "Collins Pope syndrome", "dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism", "dislocation of the hip dysmorphism", "hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism" ], "definition": "Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995." }, "child_count": 0, "reference_id": "MONDO:0011081" }, { "id": 12347, "label": "short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6893, 16089, 18718 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017633", "MEDGEN:355971", "MESH:C566544", "OMIM:602471", "Orphanet:397623", "SCTID:417081007", "UMLS:C1865361" ], "synonyms": [ "SAMS syndrome", "short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities", "SAMS", "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0011227" }, { "id": 12363, "label": "grange syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016697", "MEDGEN:355427", "MESH:C566529", "OMIM:602531", "Orphanet:79094", "SCTID:717824007", "UMLS:C1865267", "icd11.foundation:729368905" ], "synonyms": [ "grange occlusive arterial syndrome", "grange syndrome", "progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome", "GRNG", "arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly" ], "definition": "Grange syndrome is characterized by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases." }, "child_count": 0, "reference_id": "MONDO:0011243" }, { "id": 12382, "label": "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16089, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000216", "MEDGEN:355918", "MESH:C535876", "OMIM:602612", "Orphanet:1323", "SCTID:715986009", "UMLS:C1865133" ], "synonyms": [ "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye", "Rozin hertz Goodman syndrome", "camptodactyly, joint contractures, facial skeletal defects" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline)." }, "child_count": 0, "reference_id": "MONDO:0011262" }, { "id": 12437, "label": "arhinia, choanal atresia, and microphthalmia", "isLeaf": true, "isRoot": false, "parents": [ 16089, 16526 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027263", "MEDGEN:355084", "MESH:C537429", "OMIM:603457", "Orphanet:1135", "Orphanet:2250", "SCTID:720511000", "UMLS:C1863878" ], "synonyms": [ "BAMS", "Bosma Arhinia Microphthalmia Syndrome", "Bosma Henkin Christiansen syndrome", "Bosma arhinia microphthalmia syndrome", "Bosma arhinia-microphthalmia syndrome", "Bosma-Henkin-Christiansen syndrome", "arhinia choanal atresia microphthalmia", "arrhinia-choanal atresia-microphthalmia syndrome", "hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome", "congenital absence of nose and anterior nasopharynx" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any syndromic disease characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence that occurs due to variation in the SMCHD1 gene." }, "child_count": 0, "reference_id": "MONDO:0011323" }, { "id": 12877, "label": "anonychia-microcephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005123", "MEDGEN:339565", "OMIM:607214", "Orphanet:1094", "SCTID:720494009", "UMLS:C1846617" ], "synonyms": [ "Teebi-Kaurah syndrome", "anonychia total with microcephaly", "anonychia, total, with microcephaly", "total anonychia congenita and microcephaly", "total anonychia with microcephaly" ], "definition": "Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth." }, "child_count": 0, "reference_id": "MONDO:0011795" }, { "id": 12904, "label": "developmental malformations-deafness-dystonia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16089, 23452 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009818", "MEDGEN:1848671", "MESH:C537704", "OMIM:607371", "Orphanet:79107", "UMLS:C5848323" ], "synonyms": [ "DJO", "dystonia, juvenile-onset", "juvenile-onset dystonia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome." }, "child_count": 0, "reference_id": "MONDO:0011823" }, { "id": 12947, "label": "lethal congenital contracture syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 16089, 17730 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060560", "GARD:0009177", "MEDGEN:334413", "MESH:C564369", "OMIM:607598", "Orphanet:137776", "SCTID:715419004", "UMLS:C1843478" ], "synonyms": [ "ERBB3 lethal congenital contracture syndrome", "LCCS2", "lethal congenital contractural syndrome 2", "lethal congenital contracture syndrome 2", "lethal congenital contracture syndrome caused by mutation in ERBB3", "lethal congenital contracture syndrome type 2", "multiple contracture syndrome, Israeli-Bedouin type", "multiple contracture syndrome, Israeli Bedouin type", "multiple contracture syndrome, Israeli Bedouin type a" ], "definition": "Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported." }, "child_count": 0, "reference_id": "MONDO:0011868" }, { "id": 12985, "label": "craniolenticulosutural dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070307", "GARD:0016647", "MEDGEN:334671", "MESH:C564332", "OMIM:607812", "Orphanet:50814", "SCTID:725100001", "UMLS:C1843042", "icd11.foundation:970423180" ], "synonyms": [ "Boyadjiev-Jabs syndrome", "craniolenticulosutural dysplasia", "CLSD" ], "definition": "Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia." }, "child_count": 0, "reference_id": "MONDO:0011911" }, { "id": 13048, "label": "8q22.1 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 17326 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004722", "MEDGEN:334165", "MESH:C536110", "OMIM:608156", "Orphanet:178303", "SCTID:719664004", "UMLS:C1842464" ], "synonyms": [ "Nablus mask-like facial syndrome", "monosomy 8q22.1", "NABLUS mask-like facial syndrome", "NMLFS", "chromosome 8Q22.1 deletion syndrome" ], "definition": "The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." }, "child_count": 0, "reference_id": "MONDO:0011977" }, { "id": 13100, "label": "Braddock syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6873, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016652", "MEDGEN:333986", "MESH:C564244", "OMIM:608406", "Orphanet:52047", "SCTID:720575002", "UMLS:C1842082" ], "synonyms": [ "Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency", "VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." }, "child_count": 0, "reference_id": "MONDO:0012032" }, { "id": 13132, "label": "choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080695", "GARD:0010041", "MEDGEN:325265", "MESH:C563682", "OMIM:608572", "Orphanet:1200", "UMLS:C1837822" ], "synonyms": [ "Burn-McKeown syndrome", "oculootofacial dysplasia", "BMKS", "bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance", "choanal atresia deafness cardiac defects dysmorphism" ], "definition": "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome." }, "child_count": 0, "reference_id": "MONDO:0012064" }, { "id": 13228, "label": "BNAR syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2727, 4370, 16089, 18718 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010595", "MEDGEN:413305", "MESH:C567672", "OMIM:608980", "Orphanet:217266", "SCTID:717940006", "UMLS:C2750433" ], "synonyms": [ "bifid nose with or without anorectal and renal anomalies", "BNAR", "bifid NOSE with or without anorectal and renal anomalies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome." }, "child_count": 0, "reference_id": "MONDO:0012165" }, { "id": 13380, "label": "Frias syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 17331 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002384", "MEDGEN:400621", "MESH:C535639", "OMIM:609640", "Orphanet:2055", "Orphanet:264200", "UMLS:C1864825" ], "synonyms": [ "14q22-q23 microdeletion syndrome", "14q22q23 microdeletion syndrome", "Del(14)(q22q23)", "Frias syndrome", "monosomy 14q22-q23", "monosomy 14q22q23", "Growth deficiency, Facial anomalies, and brachydactyly", "chromosome 14Q22 deletion syndrome" ], "definition": "A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression." }, "child_count": 0, "reference_id": "MONDO:0012324" }, { "id": 13697, "label": "lethal congenital contracture syndrome 3", "isLeaf": true, "isRoot": false, "parents": [ 16089, 17730 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060653", "GARD:0012644", "MEDGEN:369555", "MESH:C566961", "OMIM:611369", "Orphanet:137783", "SCTID:715420005", "UMLS:C1969655" ], "synonyms": [ "LCCS3", "PIP5K1C lethal congenital contracture syndrome", "lethal congenital contractural syndrome 3", "lethal congenital contracture syndrome 3", "lethal congenital contracture syndrome caused by mutation in PIP5K1C", "lethal congenital contracture syndrome type 3", "multiple contracture syndrome, Israeli Bedouin type B" ], "definition": "Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement." }, "child_count": 0, "reference_id": "MONDO:0012656" }, { "id": 13893, "label": "Fontaine progeroid syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 16199, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004497", "ICD9:759.89", "MEDGEN:394125", "MESH:C537290", "NORD:1201", "OMIM:233500", "OMIM:612289", "Orphanet:2095", "Orphanet:2963", "Orphanet:697101", "SCTID:205800003", "UMLS:C2676780" ], "synonyms": [ "FPS", "Fontaine progeroid syndrome", "GCM syndrome", "GCMS", "Gorlin Chaudhry Moss syndrome", "Gorlin-Chaudhry-Moss Syndrome", "Gorlin-Chaudhry-Moss syndrome", "Petty syndrome", "Petty-Laxova-Wiedemann syndrome", "craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence", "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora", "craniofacial dysostosis-genital, dental, cardiac anomalies syndrome", "cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome", "dental and eye anomalies, patent ductus arteriosus, and normal intelligence", "dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome", "progeroid syndrome Petty type", "progeroid syndrome congenital Petty type", "progeroid syndrome, Petty type", "progeroid syndrome, congenital, Petty type", "Petty Laxova Wiedemann syndrome", "craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated." }, "child_count": 0, "reference_id": "MONDO:0012853" }, { "id": 14091, "label": "microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type", "isLeaf": true, "isRoot": false, "parents": [ 6967, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017116", "MEDGEN:414129", "MESH:C567850", "OMIM:612946", "Orphanet:217026", "SCTID:719395001", "UMLS:C2751878" ], "synonyms": [ "Hadziselimovic syndrome", "microcephaly-faciocardioskeletal syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." }, "child_count": 0, "reference_id": "MONDO:0013053" }, { "id": 14156, "label": "Nijmegen breakage syndrome-like disorder", "isLeaf": true, "isRoot": false, "parents": [ 16089, 16198, 20416 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017184", "MEDGEN:442700", "MESH:C567767", "NCIT:C153178", "OMIM:613078", "Orphanet:240760", "SCTID:766753005", "UMLS:C2751318", "icd11.foundation:1014526672" ], "synonyms": [ "NBSLD", "NBs-like disorder", "Nijmegen breakage syndrome-like disorder", "RAD50 deficiency", "microcephaly and chromosomal instability without immunodeficiency", "Rad50 deficiency", "microcephaly and spontaneous chromosome instability without immunodeficiency" ], "definition": "Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly." }, "child_count": 0, "reference_id": "MONDO:0013118" }, { "id": 14288, "label": "Warsaw breakage syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060535", "GARD:0013708", "ICD9:759.89", "MEDGEN:462008", "NCIT:C164675", "OMIM:613398", "Orphanet:280558", "SCTID:702829000", "UMLS:C3150658", "icd11.foundation:833375162" ], "synonyms": [ "WABS", "Warsaw breakage syndrome", "WARSAW breakage syndrome" ], "definition": "A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11." }, "child_count": 0, "reference_id": "MONDO:0013252" }, { "id": 15789, "label": "even-plus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 17206 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017913", "MEDGEN:904613", "OMIM:616854", "Orphanet:496751", "UMLS:C4225180" ], "synonyms": [ "EVPLS", "epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome", "even-plus syndrome", "epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014801" }, { "id": 15803, "label": "split-foot malformation-mesoaxial polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017889", "MEDGEN:1798910", "OMIM:616890", "Orphanet:488232", "UMLS:C5567487" ], "synonyms": [ "SFMMP", "split-foot malformation with mesoaxial polydactyly", "split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014816" }, { "id": 16121, "label": "anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000717", "MEDGEN:929704", "Orphanet:1101", "SCTID:720495005", "UMLS:C4304035" ], "synonyms": [ "Cassia Stocco dos Santos syndrome", "anophthalmia megalocornea cardiopathy skeletal anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992." }, "child_count": 0, "reference_id": "MONDO:0015230" }, { "id": 16130, "label": "digitotalar dysmorphism", "isLeaf": false, "isRoot": false, "parents": [ 16089, 19660 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111596", "GARD:0000787", "MESH:C565097", "Orphanet:1146", "icd11.foundation:1679749810" ], "synonyms": [ "DA1", "arthrogryposis multiplex congenita distal type 1", "digitotalar dysmorphism", "distal arthrogryposis type 1", "distal arthrogryposis type 1A (sub-type)", "distal arthrogryposis type 1B (sub-type)", "AMCD1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis." }, "child_count": 6, "reference_id": "MONDO:0015240" }, { "id": 16166, "label": "heart-hand syndrome type 2", "isLeaf": true, "isRoot": false, "parents": [ 16089, 16946 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009847", "MEDGEN:444030", "MESH:C536784", "Orphanet:1350", "SCTID:721010003", "UMLS:C2931323", "icd11.foundation:2111612055" ], "synonyms": [ "Tabatznik syndrome", "atriodigital dysplasia type 2", "heart-hand syndrome 2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." }, "child_count": 0, "reference_id": "MONDO:0015284" }, { "id": 16197, "label": "night blindness-skeletal anomalies-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003994", "MEDGEN:1814437", "Orphanet:1390", "UMLS:C5679607" ], "synonyms": [ "Hunter-Thompson-Reed syndrome", "Hunter Thompson Reed syndrome" ], "definition": "This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia)." }, "child_count": 0, "reference_id": "MONDO:0015326" }, { "id": 16224, "label": "Charlie M syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 17499 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001261", "MEDGEN:1379887", "Orphanet:1406", "SCTID:733034007", "UMLS:C4518555", "icd11.foundation:1284734481" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976." }, "child_count": 0, "reference_id": "MONDO:0015367" }, { "id": 16669, "label": "facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002221", "MEDGEN:419355", "MESH:C536384", "Orphanet:1969", "UMLS:C2931183" ], "synonyms": [ "Friedman-Goodman syndrome", "faces syndrome", "facial features (unique), anorexia, cachexia, eye and skin anomalies" ] }, "child_count": 0, "reference_id": "MONDO:0016031" }, { "id": 16686, "label": "cleft lip-retinopathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000435", "MEDGEN:419494", "MESH:C538272", "Orphanet:1995", "UMLS:C2931789" ], "synonyms": [ "Ausems-Wittebol Post-Hennekam syndrome", "cleft lip-cone rod dystrophy syndrome", "cleft lip-progressive retinopathy syndrome", "Ausems Wittebol-Post Hennekam syndrome", "cleft lip with progressive retinopathy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy." }, "child_count": 0, "reference_id": "MONDO:0016051" }, { "id": 16712, "label": "Cole-Carpenter syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16089, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060438", "GARD:0001425", "MEDGEN:350614", "MESH:C535963", "NCIT:C130985", "OMIMPS:112240", "Orphanet:2050", "UMLS:C1862178", "icd11.foundation:1458793358" ], "synonyms": [ "bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome", "Cole Carpenter syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)." }, "child_count": 6, "reference_id": "MONDO:0016085" }, { "id": 16714, "label": "progressive non-infectious anterior vertebral fusion", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018759", "MEDGEN:930508", "Orphanet:2062", "SCTID:719268008", "UMLS:C4304839" ], "synonyms": [ "Copenhagen syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." }, "child_count": 0, "reference_id": "MONDO:0016087" }, { "id": 16802, "label": "dysmorphism-pectus carinatum-joint laxity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018760", "MEDGEN:1385827", "Orphanet:2104", "UMLS:C4518558" ], "synonyms": [ "Guízar Vázquez-Sánchez-Manzano syndrome", "dysmorphism-pectus carinatum-joint laxity syndrome", "Guizar Vasquez Sanchez Manzano syndrome" ], "definition": "Dysmorphism-pectus carinatum-joint laxity syndrome is characterized by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown." }, "child_count": 0, "reference_id": "MONDO:0016219" }, { "id": 16850, "label": "Hirschsprung disease-type D brachydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 20415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002700", "MEDGEN:375339", "MESH:C538319", "OMIM:306980", "Orphanet:2150", "UMLS:C1844017" ], "synonyms": [ "Hirschsprung disease with type d brachydactyly", "Hirschsprung disease type d brachydactyly", "Hirschsprung disease with type D brachydactyly", "familial Hirschsprung's disease and type D brachydactyly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out." }, "child_count": 0, "reference_id": "MONDO:0016294" }, { "id": 17075, "label": "mandibuloacral dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 16089, 16198, 19478, 19731 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081127", "GARD:0011893", "MEDGEN:98485", "NORD:1398", "OMIMPS:248370", "Orphanet:2457", "UMLS:C0432291", "icd11.foundation:1687046570" ], "synonyms": [ "MAD", "mandibuloacral dysplasia with lipodystrophy" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy." }, "child_count": 8, "reference_id": "MONDO:0016584" }, { "id": 18011, "label": "contractures - webbed neck - micrognathia - hypoplastic nipples syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021364", "MEDGEN:1661787", "Orphanet:314002", "UMLS:C4751075" ], "synonyms": [ "Dinno syndrome" ] }, "child_count": 0, "reference_id": "MONDO:0017788" }, { "id": 18209, "label": "Thomas syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6967, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005175", "MEDGEN:419362", "MESH:C536514", "Orphanet:3316", "SCTID:716740009", "UMLS:C2931225" ], "synonyms": [ "Potter sequence-cleft lip/palate-cardiopathy syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0018043" }, { "id": 18254, "label": "Waardenburg syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9258", "GARD:0005525", "MEDGEN:473809", "MESH:D014849", "MedDRA:10069203", "NCIT:C85222", "NORD:1832", "OMIMPS:193500", "Orphanet:3440", "SCTID:715952000", "UMLS:C3266898", "icd11.foundation:304883627" ], "synonyms": [ "Waardenburg syndrome", "Waardenburg's syndrome", "Mende syndrome", "Van der Hoeve Halbertsma Waardenburg Gualdi syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." }, "child_count": 15, "reference_id": "MONDO:0018094" }, { "id": 18256, "label": "Weill-Marchesani syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2905, 4370, 16089, 19473 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050475", "GARD:0004936", "ICD9:759.89", "MEDGEN:82705", "MESH:D056846", "MedDRA:10064963", "NCIT:C85226", "NORD:1842", "OMIMPS:277600", "Orphanet:3449", "SCTID:2884008", "UMLS:C0265313" ], "synonyms": [ "Weill Marchesani Syndrome", "spherophakia-brachymorphia syndrome", "WM syndrome", "WMS", "mesodermal dysmorphodystrophy congenital" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma." }, "child_count": 16, "reference_id": "MONDO:0018096" }, { "id": 18810, "label": "branchiootic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 16089 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060232", "GARD:0010148", "MEDGEN:1636666", "MESH:C537104", "NANDO:1200675", "OMIMPS:602588", "Orphanet:52429", "SCTID:764810000", "UMLS:C4273131" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space)." }, "child_count": 9, "reference_id": "MONDO:0018878" }, { "id": 19051, "label": "auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018933", "MEDGEN:1378358", "Orphanet:77300", "UMLS:C4518478" ], "definition": "The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities." }, "child_count": 0, "reference_id": "MONDO:0019178" }, { "id": 19057, "label": "Axenfeld-Rieger syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 16089, 20691, 24305 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14686", "GARD:0005701", "ICD9:743.44", "MEDGEN:501192", "MESH:C535679", "MedDRA:10059255", "NCIT:C131001", "NORD:1670", "OMIMPS:180500", "Orphanet:782", "SCTID:47507006", "UMLS:C3495488" ], "synonyms": [ "ARS", "Axenfeld syndrome", "Axenfeldt-Rieger syndrome", "Rieger syndrome", "goniodysgenesis hypodontia", "iridogoniodysgenesis with somatic anomalies" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." }, "child_count": 15, "reference_id": "MONDO:0019187" }, { "id": 19218, "label": "macrostomia-preauricular tags-external ophthalmoplegia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019044", "MEDGEN:1391725", "Orphanet:83619", "UMLS:C4509840" ], "definition": "Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0019387" }, { "id": 19219, "label": "pelvis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 21330 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019045", "MEDGEN:1374037", "Orphanet:83628", "SCTID:725138002", "UMLS:C4510867", "icd11.foundation:1311821224" ], "synonyms": [ "LUMBAR syndrome", "Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome", "SACRAL syndrome", "perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome", "urorectal septum malformation sequence" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported." }, "child_count": 0, "reference_id": "MONDO:0019388" }, { "id": 19221, "label": "Fanconi anemia", "isLeaf": false, "isRoot": false, "parents": [ 3000, 3901, 5177, 16089, 16198, 20416 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13636", "GARD:0006425", "ICD9:284.09", "MEDGEN:41967", "MESH:D005199", "MedDRA:10055206", "NANDO:1200303", "NANDO:1200891", "NANDO:2200652", "NCIT:C62505", "NORD:1132", "OMIMPS:227650", "Orphanet:84", "SCTID:30575002", "UMLS:C0015625" ], "synonyms": [ "Fanconi anemia", "Fanconi pancytopenia", "Fanconi's anemia", "Panmyelopathy, Fanconi", "pancytopenia, congenital", "primary erythroid hypoplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." }, "child_count": 132, "reference_id": "MONDO:0019391" }, { "id": 19325, "label": "van der Woude syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 16089, 29242 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060239", "GARD:0008414", "ICD9:744.89", "MEDGEN:61233", "MESH:C536528", "NCIT:C74986", "OMIMPS:119300", "Orphanet:888", "SCTID:79261008", "UMLS:C0175697", "icd11.foundation:133440037" ], "synonyms": [ "VWS", "cleft lip/palate with mucous cysts of lower lip", "lip-pit syndrome", "LPS", "cleft lip and/or palate with mucous cysts of lower lip", "lip pit syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." }, "child_count": 6, "reference_id": "MONDO:0019508" }, { "id": 19658, "label": "hypertrichosis-acromegaloid facial appearance syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 19135 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000502", "Orphanet:966", "SCTID:721837000" ], "synonyms": [ "haff", "hypertrichosis-acromegaloid facial features syndrome", "hypertrichosis-coarse face syndrome", "acromegaloid facial appearance syndrome and hypertrichosis", "acromegaloid hypertrichosis syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type." }, "child_count": 0, "reference_id": "MONDO:0019940" }, { "id": 19929, "label": "49,XYYYY syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 24426, 24481 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019679", "MEDGEN:1384259", "Orphanet:99330", "SCTID:734028007", "UMLS:C4518342" ], "definition": "49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults." }, "child_count": 0, "reference_id": "MONDO:0020470" }, { "id": 20218, "label": "congenital vertebral-cardiac-renal anomalies syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7611, 16089, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017961", "MEDGEN:1814457", "OMIMPS:617660", "Orphanet:521438", "UMLS:C5680183" ], "synonyms": [ "VCRL", "vertebral, cardiac, renal, and limb defects syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 9, "reference_id": "MONDO:0020831" }, { "id": 23324, "label": "structural heart defects and renal anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025893", "MEDGEN:1387412", "OMIM:617478", "Orphanet:689822", "UMLS:C4479549" ], "synonyms": [ "structural heart defects and renal anomalies syndrome", "SHDRA" ] }, "child_count": 0, "reference_id": "MONDO:0044321" }, { "id": 25837, "label": "Greig cephalopolysyndactyly-contiguous gene syndrome", "isLeaf": true, "isRoot": false, "parents": [ 9593, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026945", "MEDGEN:1864335", "Orphanet:658805", "UMLS:C5925145" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0958130" } ], "roots": [ { "id": 18951, "label": "multiple congenital anomalies/dysmorphic syndrome" } ] }