{ "id": 24323, "label": "autosomal dominant syndromic intellectual disability", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0100601", "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal dominant form of syndromic intellectual disability." }, "isLeaf": false, "isRoot": false, "child_count": 34, "parents": [ { "id": 2961, "label": "syndromic intellectual disability", "isLeaf": false, "isRoot": false, "parents": [ 3324, 4370 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050888", "MEDGEN:1842178", "UMLS:C5680525" ], "synonyms": [ "syndrome associated with intellectual disability", "syndromic intellectual disability" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A intellectual disability that is part of a larger syndrome." }, "child_count": 34, "reference_id": "MONDO:0000508" }, { "id": 23914, "label": "intellectual disability, autosomal dominant", "isLeaf": false, "isRoot": false, "parents": [ 2903, 3324, 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:156200" ], "synonyms": [ "mental retardation, autosomal dominant", "autosomal dominant intellectual disability" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 87, "reference_id": "MONDO:0100172" } ], "children": [ { "id": 9044, "label": "Myhre syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19473, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002572", "ICD9:759.89", "MEDGEN:167103", "MESH:C537620", "NCIT:C123815", "NORD:1481", "OMIM:139210", "Orphanet:2588", "SCTID:699316006", "UMLS:C0796081" ], "synonyms": [ "Myhre syndrome", "facial dysmorphism-intellectual disability-short stature-hearing loss syndrome", "Growth mental deficiency syndrome of Myhre", "Growth-mental deficiency syndrome of Myhre", "LAPS syndrome", "MYHRE syndrome", "MYHRS", "facial dysmorphism - intellectual deficit - short stature - hearing loss", "laryngotracheal stenosis, arthropathy, prognathism, and short stature" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients." }, "child_count": 0, "reference_id": "MONDO:0007688" }, { "id": 9182, "label": "KBG syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14780", "GARD:0000082", "ICD9:759.89", "MEDGEN:66317", "MESH:C537015", "NORD:1322", "OMIM:148050", "Orphanet:2332", "SCTID:711156009", "UMLS:C0220687", "icd11.foundation:465550090" ], "synonyms": [ "KBG syndrome", "short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome", "KBGS", "macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies", "macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies", "short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies", "short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay." }, "child_count": 0, "reference_id": "MONDO:0007846" }, { "id": 9692, "label": "Rubinstein-Taybi syndrome due to CREBBP mutations", "isLeaf": true, "isRoot": false, "parents": [ 19058, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017534", "MEDGEN:1639327", "NCIT:C153290", "OMIM:180849", "Orphanet:353277", "UMLS:C4551859" ], "synonyms": [ "CREBBP Rubinstein-Taybi syndrome", "RSTS1", "Rubinstein-Taybi syndrome 1", "Rubinstein-Taybi syndrome caused by mutation in CREBBP", "Rubinstein-Taybi syndrome due to CREBBP mutations", "Rubinstein-Taybi syndrome type 1", "RSTS", "Rubinstein syndrome", "broad thumb-hallux syndrome", "broad thumbs and great toes, characteristic facies, and intellectual disability", "broad thumbs and great toes, characteristic facies, and mental retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene." }, "child_count": 0, "reference_id": "MONDO:0008393" }, { "id": 10573, "label": "Mowat-Wilson syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 16437, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060485", "GARD:0009673", "ICD9:759.89", "MEDGEN:341067", "MESH:C536990", "NANDO:1200663", "NANDO:2200981", "NCIT:C74999", "NORD:1456", "OMIM:235730", "Orphanet:2152", "SCTID:703535000", "UMLS:C1856113", "icd11.foundation:1985672762" ], "synonyms": [ "Hirschsprung disease intellectual disability syndrome", "Hirschsprung disease-intellectual disability syndrome", "Mowat-Wilson syndrome", "microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease", "Hirschsprung disease-mental retardation syndrome", "MOWS", "intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease", "mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease", "microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease", "microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations." }, "child_count": 8, "reference_id": "MONDO:0009341" }, { "id": 11204, "label": "Schinzel-Giedion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16088, 19138, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070509", "GARD:0000117", "ICD9:759.89", "MEDGEN:120517", "MESH:C536632", "MedDRA:10063540", "NCIT:C129308", "NORD:1694", "OMIM:269150", "Orphanet:798", "SCTID:18899000", "UMLS:C0265227", "icd11.foundation:1542318431" ], "synonyms": [ "SGS", "Schinzel Giedion Syndrome", "Schinzel-Giedion midface-retraction syndrome", "Schinzel-Giedion syndrome", "Schinzel Giedion midface-retraction syndrome", "Schinzel Giedion syndrome", "Schinzel-Giedion midface retraction syndrome", "Sgs" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." }, "child_count": 0, "reference_id": "MONDO:0010010" }, { "id": 12179, "label": "intellectual disability-sparse hair-brachydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323, 24515 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081441", "GARD:0000270", "MEDGEN:220983", "MESH:C536116", "OMIM:601358", "Orphanet:3051", "SCTID:401046009", "UMLS:C1303073" ], "synonyms": [ "Nicolaides-Baraitser syndrome", "SMARCA2-related BAFopathy", "intellectual disability-sparse hair-brachydactyly syndrome", "NBs", "NCBRS", "NICOLAIDES-Baraitser syndrome", "sparse hair and intellectual disability", "sparse hair and mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now." }, "child_count": 0, "reference_id": "MONDO:0011053" }, { "id": 12334, "label": "Pierpont syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19144, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081362", "GARD:0017885", "MEDGEN:356049", "MESH:C566559", "OMIM:602342", "Orphanet:487825", "UMLS:C1865644" ], "synonyms": [ "Pierpont syndrome", "plantar lipomatosis-facial dysmorphism-developmental delay syndrome", "plantar lipomatosis-unusual facies-developmental delay syndrome", "PIERPONT syndrome", "PRPTS", "plantar lipomatosis, unusual facies, and developmental delay" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear." }, "child_count": 0, "reference_id": "MONDO:0011213" }, { "id": 12610, "label": "Bohring-Opitz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010140", "MEDGEN:208678", "MESH:C537419", "NCIT:C131533", "NORD:1981", "OMIM:605039", "Orphanet:97297", "SCTID:720565000", "UMLS:C0796232" ], "synonyms": [ "Bohring syndrome", "Bohring-Opitz syndrome", "Bos syndrome", "C-like syndrome", "Oberklaid-Danks syndrome", "Opitz trigonocephaly-like syndrome", "BOHRING-Opitz syndrome", "BOPS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported." }, "child_count": 0, "reference_id": "MONDO:0011510" }, { "id": 13207, "label": "hereditary cryohydrocytosis with reduced stomatin", "isLeaf": true, "isRoot": false, "parents": [ 5573, 17944, 19735, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017036", "MEDGEN:332390", "MESH:C563840", "OMIM:608885", "Orphanet:168577", "UMLS:C1837206", "icd11.foundation:1459095719" ], "synonyms": [ "ChC type 2", "hereditary cryohydrocytosis type 2", "sdCHC", "stomatin-deficient cryohydrocytosis", "GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis", "SDCHCN", "cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly", "cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly", "stomatin-deficient cryohydrocytosis with neurologic defects" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012143" }, { "id": 14385, "label": "intellectual disability-severe speech delay-mild dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111331", "GARD:0012501", "MEDGEN:862201", "OMIM:613670", "Orphanet:391372", "UMLS:C4013764" ], "synonyms": [ "FOXP1 haploinsufficiency", "FOXP1 syndrome", "FOXP1-related neurodevelopmental disorder", "intellectual disability-severe speech delay-mild dysmorphism syndrome", "FOXP1 related global developmental delay, intellectual disability and speech defects", "intellectual disability with language impairment and with or without autistic features", "mental retardation with language impairment and with or without autistic features" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant form of syndromic intellectual disability caused by mutation in the FOXP1 gene. It is characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads and delayed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family)." }, "child_count": 0, "reference_id": "MONDO:0013352" }, { "id": 14397, "label": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency", "isLeaf": true, "isRoot": false, "parents": [ 19058, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017535", "MEDGEN:462291", "NCIT:C153291", "OMIM:613684", "Orphanet:353284", "UMLS:C3150941" ], "synonyms": [ "EP300 Rubinstein-Taybi syndrome", "Rubinstein-Taybi syndrome caused by mutation in EP300", "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency", "Rubinstein-Taybi syndrome type 2", "RSTS2", "Rubinstein-Taybi syndrome 2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene." }, "child_count": 0, "reference_id": "MONDO:0013364" }, { "id": 14606, "label": "DYRK1A-related intellectual disability syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070037", "GARD:0013527", "MEDGEN:1799566", "OMIM:614104", "Orphanet:464306", "UMLS:C5568143" ], "synonyms": [ "MRD7", "autosomal dominant intellectual disability 7", "intellectual disability, autosomal dominant type 7", "mental retardation, autosomal dominant type 7", "autosomal dominant non-syndromic intellectual disability 7", "intellectual disability, autosomal dominant 7", "mental retardation, autosomal dominant 7" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13." }, "child_count": 6, "reference_id": "MONDO:0013578" }, { "id": 14821, "label": "intellectual disability, autosomal dominant 13", "isLeaf": true, "isRoot": false, "parents": [ 24323, 29261 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061144", "DOID:0070043", "GARD:0016462", "MEDGEN:482832", "OMIM:614563", "UMLS:C3281202" ], "synonyms": [ "DYNC1H1 autosomal dominant non-syndromic intellectual disability", "MRD13", "autosomal dominant intellectual disability 13", "autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1", "intellectual disability, autosomal dominant 13", "intellectual disability, autosomal dominant 13, with neuronal migration defects", "intellectual disability, autosomal dominant type 13", "mental retardation, autosomal dominant type 13", "autosomal dominant non-syndromic intellectual disability 13", "intellectual disability, autosomal dominant, 13, with neuronal migration defects", "mental retardation, autosomal dominant 13", "mental retardation, autosomal dominant, 13, with neuronal migration defects" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene." }, "child_count": 0, "reference_id": "MONDO:0013805" }, { "id": 15016, "label": "Schuurs-Hoeijmakers syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070047", "GARD:0013043", "MEDGEN:767257", "NCIT:C150555", "OMIM:615009", "Orphanet:329224", "UMLS:C3554343" ], "synonyms": [ "MRD17", "SHMS", "Schuurs-Hoeijmakers syndrome", "autosomal dominant intellectual disability 17", "intellectual disability, autosomal dominant type 17", "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome", "mental retardation, autosomal dominant type 17", "PACS1-related syndrome", "autosomal dominant intellectual disability-17", "intellectual disability, autosomal dominant 17", "mental retardation, autosomal dominant 17" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed." }, "child_count": 0, "reference_id": "MONDO:0014006" }, { "id": 15044, "label": "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070048", "GARD:0012815", "MEDGEN:767362", "OMIM:615074", "Orphanet:363686", "UMLS:C3554448" ], "synonyms": [ "GAND syndrome", "MRD18", "autosomal dominant intellectual disability 18", "intellectual disability, autosomal dominant type 18", "mental retardation, autosomal dominant type 18", "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome", "GATAD2B-associated neurodevelopmental disorder", "autosomal dominant non-syndromic intellectual disability 18", "intellectual disability, autosomal dominant 18", "mental retardation, autosomal dominant 18" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3." }, "child_count": 0, "reference_id": "MONDO:0014034" }, { "id": 15045, "label": "severe intellectual disability-progressive spastic diplegia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24295, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070049", "GARD:0003505", "ICD10CM:Q87.88", "MEDGEN:767363", "OMIM:615075", "Orphanet:404473", "UMLS:C3554449" ], "synonyms": [ "CTNNB1 syndrome", "MRD19", "autosomal dominant intellectual disability 19", "intellectual disability, autosomal dominant type 19", "mental retardation, autosomal dominant type 19", "neurodevelopmental disorder with spastic diplegia and visual defects", "severe intellectual disability-progressive spastic diplegia syndrome", "CTNNB1-related intellectual disability", "autosomal dominant non-syndromic intellectual disability 19", "intellectual disability, autosomal dominant 19", "mental retardation, autosomal dominant 19" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person." }, "child_count": 0, "reference_id": "MONDO:0014035" }, { "id": 15219, "label": "CTCF-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070051", "GARD:0017566", "MEDGEN:816016", "OMIM:615502", "Orphanet:363611", "UMLS:C3809686" ], "synonyms": [ "MRD21", "intellectual development disorder, autosomal dominant 21", "intellectual disability, autosomal dominant 21", "intellectual disability, autosomal dominant type 21", "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome", "mental retardation, autosomal dominant 21", "mental retardation, autosomal dominant type 21" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss." }, "child_count": 0, "reference_id": "MONDO:0014213" }, { "id": 15323, "label": "Bosch-Boonstra-Schaaf optic atrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112226", "GARD:0012903", "MEDGEN:816693", "OMIM:615722", "Orphanet:401777", "UMLS:C3810363" ], "synonyms": [ "BBSOAS", "Bosch-Boonstra-Schaaf optic atrophy syndrome", "optic atrophy-intellectual disability syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific." }, "child_count": 0, "reference_id": "MONDO:0014320" }, { "id": 15363, "label": "autism spectrum disorder due to AUTS2 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070056", "GARD:0017520", "MEDGEN:862872", "OMIM:615834", "Orphanet:352490", "UMLS:C4014435" ], "synonyms": [ "ASD due to AUTS2 deficiency", "AUTS2 syndrome", "MRD26", "autism spectrum disorder due to AUTS2 deficiency", "intellectual developmental disorder, autosomal dominant 26", "intellectual disability type 26", "mental retardation, autosomal dominant 26", "mental retardation, autosomal dominant type 26" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures." }, "child_count": 0, "reference_id": "MONDO:0014361" }, { "id": 15381, "label": "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070058", "GARD:0012931", "MEDGEN:862975", "NORD:1965", "OMIM:615873", "Orphanet:404448", "SCTID:766824003", "UMLS:C4014538" ], "synonyms": [ "ADNP Syndrome", "ADNP syndrome", "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder", "HVDAS", "Helsmoortel-Van der Aa syndrome", "autosomal dominant intellectual disability 28", "intellectual disability, autosomal dominant 28", "mental retardation, autosomal dominant 28" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13." }, "child_count": 0, "reference_id": "MONDO:0014379" }, { "id": 15556, "label": "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16201, 24272, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070062", "GARD:0017797", "MEDGEN:903767", "NORD:1954", "OMIM:616268", "Orphanet:457193", "UMLS:C4225396" ], "synonyms": [ "Arboleda-Tham syndrome", "KAT6A Syndrome", "MRD32", "autosomal dominant intellectual disability 32", "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "intellectual disability, autosomal dominant type 32", "mental retardation, autosomal dominant type 32", "autosomal dominant non-syndromic intellectual disability 32", "intellectual disability, autosomal dominant 32", "mental retardation, autosomal dominant 32" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described." }, "child_count": 0, "reference_id": "MONDO:0014558" }, { "id": 15600, "label": "Houge-Janssens syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323, 25718 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070065", "GARD:0017802", "MEDGEN:1830493", "OMIM:616355", "Orphanet:457279", "UMLS:C5779996" ], "synonyms": [ "MRD35", "autosomal dominant intellectual disability 35", "intellectual disability, autosomal dominant type 35", "intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome", "mental retardation, autosomal dominant type 35", "autosomal dominant non-syndromic intellectual disability 35", "intellectual disability, autosomal dominant 35", "mental retardation, autosomal dominant 35" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1." }, "child_count": 0, "reference_id": "MONDO:0014602" }, { "id": 15604, "label": "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070067", "GARD:0013774", "MEDGEN:897984", "OMIM:616364", "Orphanet:468678", "UMLS:C4225351" ], "synonyms": [ "MRD37", "WHSUS", "autosomal dominant intellectual disability 37", "intellectual disability, autosomal dominant type 37", "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome", "mental retardation, autosomal dominant type 37", "WHITE-Sutton syndrome", "White-Sutton syndrome", "intellectual disability, autosomal dominant 37", "mental retardation, autosomal dominant 37" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)." }, "child_count": 0, "reference_id": "MONDO:0014606" }, { "id": 15762, "label": "cardiac anomalies - developmental delay - facial dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24272, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017588", "HGNC:22962", "MEDGEN:1675852", "OMIM:616789", "Orphanet:369891", "UMLS:C5192431" ], "synonyms": [ "ASRAS", "Asadollahi-Rauch syndrome", "MED13L haploinsufficiency syndrome", "MED13L syndrome", "MED13L-related intellectual disability", "MRFACD", "cardiac anomalies - developmental delay - facial dysmorphism syndrome", "developmental delay-facial dysmorphism syndrome due to MED13L deficiency", "impaired intellectual development and distinctive facial features with or without cardiac defects", "intellectual disability and distinctive facial features with or without cardiac defects", "mental retardation and distinctive Facial features with or without Cardiac defects", "MED13L-related syndrome", "MRFACD syndrome", "mental retardation and distinctive FACIAL features with or without CARDIAC defects" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features, such as cardiac defects." }, "child_count": 0, "reference_id": "MONDO:0014773" }, { "id": 15873, "label": "micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070074", "GARD:0017850", "MEDGEN:934707", "OMIM:617061", "Orphanet:476126", "UMLS:C4310740" ], "synonyms": [ "MEBAS", "MRD44", "autosomal dominant intellectual disability 44", "intellectual developmental disorder, autosomal dominant 44, with microcephaly", "mercer-Ba syndrome", "autosomal dominant non-syndromic intellectual disability 44", "intellectual disability, autosomal dominant 44", "mental retardation, autosomal dominant 44" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014892" }, { "id": 15998, "label": "intellectual developmental disorder with dysmorphic facies and ptosis", "isLeaf": true, "isRoot": false, "parents": [ 24323 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:934584", "OMIM:617333", "Orphanet:698090", "UMLS:C4310617" ], "synonyms": [ "IDDDFP", "intellectual developmental disorder with dysmorphic facies and ptosis", "intellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0015022" }, { "id": 22118, "label": "intellectual disability, autosomal dominant 48", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080235", "GARD:0017924", "MEDGEN:1619532", "OMIM:617751", "Orphanet:500159", "UMLS:C4540321" ], "synonyms": [ "intellectual disability, autosomal dominant 48", "MRD48", "autosomal dominant intellectual disability 48", "autosomal dominant mental retardation 48", "mental retardation, autosomal dominant 48", "microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030913" }, { "id": 22894, "label": "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24323, 25061 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022397", "MEDGEN:1843293", "Orphanet:597743", "UMLS:C5681587" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0035706" }, { "id": 23321, "label": "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025892", "MEDGEN:1385744", "OMIM:617450", "Orphanet:653767", "UMLS:C4479517" ], "synonyms": [ "Jansen de Vries syndrome", "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold", "IDDGIP" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017})." }, "child_count": 0, "reference_id": "MONDO:0044318" }, { "id": 23394, "label": "SIN3A-related intellectual disability syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022043", "Orphanet:500163" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 3, "reference_id": "MONDO:0044699" }, { "id": 23732, "label": "Ververi-Brady syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 24323, 26330 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018015", "OMIM:617982", "Orphanet:580940" ], "synonyms": [ "VERBRAS1", "Ververi-Brady syndrome 1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060707" }, { "id": 23746, "label": "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061129", "MEDGEN:1648498", "OMIM:618089", "UMLS:C4748135" ], "synonyms": [ "IDDFBA", "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities", "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioural abnormalities" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060760" }, { "id": 23748, "label": "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24323, 24515 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027142", "MEDGEN:1648327", "OMIM:618092", "Orphanet:662829", "UMLS:C4748152" ], "synonyms": [ "BCL11B-related disorder", "BCL11B-related BAFopathy", "intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities", "IDDSFTA", "INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene." }, "child_count": 0, "reference_id": "MONDO:0060763" }, { "id": 23889, "label": "SATB2 associated disorder", "isLeaf": false, "isRoot": false, "parents": [ 24323 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022326", "Orphanet:576278" ], "synonyms": [ "SAS", "SATB2 associated disorder", "SATB2-associated syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies." }, "child_count": 1, "reference_id": "MONDO:0100147" } ], "roots": [ { "id": 2961, "label": "syndromic intellectual disability" }, { "id": 23914, "label": "intellectual disability, autosomal dominant" } ] }