{ "id": 24802, "label": "primordial dwarfism and slender bone disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0800063", "properties": { "xrefs": [ "GARD:0026426" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death." }, "isLeaf": false, "isRoot": false, "child_count": 26, "parents": [ { "id": 18360, "label": "skeletal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7061 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:98053", "Orphanet:364526", "UMLS:C0410528" ], "synonyms": [ "Mendelian skeletal dysplasia", "primary bone dysplasia", "primary osteodysplasia", "primary skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any Mendelian diseases that affects growth and development of the skeleton." }, "child_count": 238, "reference_id": "MONDO:0018230" } ], "children": [ { "id": 10137, "label": "microcephalic osteodysplastic primordial dwarfism type II", "isLeaf": true, "isRoot": false, "parents": [ 2712, 7171, 24226, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060609", "GARD:0009844", "MEDGEN:96587", "MESH:C565898", "OMIM:210720", "Orphanet:2637", "SCTID:254103003", "UMLS:C0432246" ], "synonyms": [ "MOPD type II", "Majewski osteodysplastic primordial dwarfism type II", "MOPD II", "MOPD2", "Mopd 2", "microcephalic osteodysplastic primordial dwarfism type 2", "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "microcephalic osteodysplastic primordial dwarfism, type 2", "microcephalic osteodysplastic primordial dwarfism, type II", "osteodysplastic primordial dwarfism type 2", "osteodysplastic primordial dwarfism, type 2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." }, "child_count": 0, "reference_id": "MONDO:0008872" }, { "id": 10434, "label": "Lowry-Wood syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24283, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000264", "MEDGEN:162899", "MESH:C537038", "MedDRA:10062600", "OMIM:226960", "Orphanet:1824", "SCTID:721975004", "UMLS:C0796021", "icd11.foundation:1713071905" ], "synonyms": [ "LWS", "Lowry Wood syndrome", "Lowry-Wood syndrome", "epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy", "epiphyseal dysplasia-microcephaly-nystagmus syndrome", "epiphyseal dysplasia, microcephaly and nystagmus" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009191" }, { "id": 10553, "label": "Hallermann-Streiff syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4534", "GARD:0000288", "MEDGEN:5414", "MESH:D006210", "NANDO:2200973", "NCIT:C84746", "NORD:1888", "OMIM:234100", "Orphanet:2108", "SCTID:7903009", "UMLS:C0018522" ], "synonyms": [ "FranC'ois dyscephalic syndrome", "Francois dyscephalic syndrome", "François dyscephalic syndrome", "Hallermann syndrome", "Hallermann's syndrome", "Hallermann-Streiff syndrome", "oculomandibulofacial syndrome", "HSS", "Hallermann Streiff Francois syndrome", "Hallermann Streiff syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases." }, "child_count": 0, "reference_id": "MONDO:0009318" }, { "id": 10657, "label": "hypoparathyroidism-retardation-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 16087, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060348", "GARD:0000411", "MEDGEN:340984", "MESH:C537157", "NCIT:C133727", "OMIM:241410", "Orphanet:2323", "UMLS:C1855840" ], "synonyms": [ "HRD syndrome", "HRDS", "Richardson-Kirk syndrome", "SSS", "Sanjad-Sakati syndrome", "hypoparathyroidism with short stature, intellectual disability and seizures", "hypoparathyroidism-intellectual disability-dysmorphism syndrome", "hypoparathyroidism-retardation-dysmorphism syndrome", "hypoparathyroidism-short stature-intellectual disability-seizures syndrome", "HRD", "hypoparathyroidism with short stature, intellectual disability, and seizures", "hypoparathyroidism with short stature, mental retardation, and seizures", "hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay", "hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features." }, "child_count": 0, "reference_id": "MONDO:0009426" }, { "id": 10836, "label": "microcephalic primordial dwarfism, Toriello type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003602", "MEDGEN:381556", "MESH:C537321", "OMIM:251190", "Orphanet:2643", "SCTID:715482004", "UMLS:C1855089", "icd11.foundation:279033035" ], "synonyms": [ "microcephalic primordial dwarfism, Toriello type", "microcephalic primordial dwarfism Toriello type", "microcephalic primordial dwarfism and cataracts" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Microcephalic primordial dwarfism, Toriello type is characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009616" }, { "id": 11302, "label": "3M syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 8864, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015239", "MEDGEN:395592", "OMIM:273750", "UMLS:C2678312" ], "synonyms": [ "3-M syndrome 1", "3-M syndrome caused by mutation in CUL7", "3-M syndrome caused by mutation in Cul7", "CUL7 3-M syndrome", "Cul7 3-M syndrome", "three M syndrome 1", "three M syndrome type 1", "3M syndrome", "3M1", "Dolichospondylic dysplasia", "Le Merrer syndrome", "Yakut short stature syndrome", "gloomy face syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene." }, "child_count": 0, "reference_id": "MONDO:0010117" }, { "id": 12336, "label": "osteocraniostenosis", "isLeaf": true, "isRoot": false, "parents": [ 24802, 29335 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003396", "MEDGEN:356331", "MESH:C537291", "OMIM:602361", "Orphanet:2763", "SCTID:722109008", "UMLS:C1865639", "icd11.foundation:539409723" ], "synonyms": [ "Osteocraniosplenic syndrome", "gracile bone dysplasia", "osteocraniostenosis", "GCLEB", "skeletal dysplasia lethal with gracile bones" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." }, "child_count": 0, "reference_id": "MONDO:0011215" }, { "id": 12802, "label": "Seckel syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 19181, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070013", "GARD:0015399", "MEDGEN:338264", "MESH:C537534", "OMIM:606744", "UMLS:C1847572" ], "synonyms": [ "RBBP8 Seckel syndrome", "SCKL2", "Seckel syndrome 2", "Seckel syndrome caused by mutation in RBBP8", "Seckel syndrome type 2", "Seckel-type dwarfism 2", "microcephalic primordial dwarfism 2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene." }, "child_count": 0, "reference_id": "MONDO:0011715" }, { "id": 14077, "label": "3M syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 8864, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015591", "MEDGEN:414168", "MESH:C567862", "OMIM:612921", "UMLS:C2752041" ], "synonyms": [ "3-M syndrome 2", "3-M syndrome caused by mutation in OBSL1", "3M syndrome 2", "OBSL1 3-M syndrome", "three M syndrome 2", "three M syndrome type 2", "3M2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene." }, "child_count": 0, "reference_id": "MONDO:0013039" }, { "id": 14475, "label": "Seckel syndrome 5", "isLeaf": true, "isRoot": false, "parents": [ 19181, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070012", "GARD:0015719", "MEDGEN:462537", "OMIM:613823", "UMLS:C3151187" ], "synonyms": [ "CEP152 Seckel syndrome", "SCKL5", "Seckel syndrome 5", "Seckel syndrome caused by mutation in CEP152", "Seckel syndrome type 5" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene." }, "child_count": 0, "reference_id": "MONDO:0013443" }, { "id": 14652, "label": "3M syndrome 3", "isLeaf": true, "isRoot": false, "parents": [ 8864, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015772", "MEDGEN:481776", "OMIM:614205", "UMLS:C3280146" ], "synonyms": [ "3-M syndrome 3", "3-M syndrome caused by mutation in CCDC8", "3M syndrome 3", "CCDC8 3-M syndrome", "three M syndrome 3", "three M syndrome type 3", "3M3" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene." }, "child_count": 0, "reference_id": "MONDO:0013627" }, { "id": 14885, "label": "IMAGe syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050885", "GARD:0012312", "ICD9:759.89", "MEDGEN:337364", "NANDO:1200406", "NCIT:C130988", "OMIM:614732", "Orphanet:85173", "SCTID:702384004", "UMLS:C1846009", "icd11.foundation:1064803315" ], "synonyms": [ "IMAGe syndrome", "intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome", "intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies", "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0013873" }, { "id": 14906, "label": "short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017419", "MEDGEN:762199", "OMIM:614813", "Orphanet:314394", "UMLS:C3542022" ], "synonyms": [ "soft syndrome", "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis", "soft" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene." }, "child_count": 0, "reference_id": "MONDO:0013894" }, { "id": 15041, "label": "microcephalic primordial dwarfism, Alazami type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017468", "MEDGEN:767353", "OMIM:615071", "Orphanet:319671", "UMLS:C3554439" ], "synonyms": [ "Alazami syndrome", "ALAZS", "facial dysmorphism, intellectual disability, and primordial dwarfism" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety." }, "child_count": 0, "reference_id": "MONDO:0014031" }, { "id": 15349, "label": "Rothmund-Thomson syndrome type 3", "isLeaf": true, "isRoot": false, "parents": [ 11197, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027860", "MEDGEN:862776", "OMIM:615789", "UMLS:C4014339" ], "synonyms": [ "Rothmund-Thomson syndrome, type 3", "short stature with microcephaly and distinctive facies" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014347" }, { "id": 15352, "label": "Seckel syndrome 8", "isLeaf": true, "isRoot": false, "parents": [ 19181, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070009", "GARD:0016013", "MEDGEN:856014", "OMIM:615807", "UMLS:C3891452" ], "synonyms": [ "DNA2 Seckel syndrome", "SCKL8", "Seckel syndrome 8", "Seckel syndrome caused by mutation in DNA2", "Seckel syndrome type 8" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene." }, "child_count": 0, "reference_id": "MONDO:0014350" }, { "id": 15472, "label": "microcephaly 13, primary, autosomal recessive", "isLeaf": true, "isRoot": false, "parents": [ 17129, 19181, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070283", "GARD:0016054", "MEDGEN:863517", "OMIM:616051", "UMLS:C4015080" ], "synonyms": [ "CENPE autosomal recessive primary microcephaly", "autosomal recessive primary microcephaly caused by mutation in CENPE", "microcephaly 13, primary, autosomal recessive", "MCPH13" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene." }, "child_count": 0, "reference_id": "MONDO:0014473" }, { "id": 15681, "label": "short stature, microcephaly, and endocrine dysfunction", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 6875, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018483", "MEDGEN:895448", "OMIM:616541", "UMLS:C4225288" ], "synonyms": [ "short stature, microcephaly, and endocrine dysfunction", "SSMED" ], "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" } ] }, "child_count": 0, "reference_id": "MONDO:0014686" }, { "id": 15714, "label": "Roifman syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6778, 17206, 24283, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009163", "MEDGEN:375801", "MESH:C535866", "OMIM:300258", "OMIM:616651", "Orphanet:353298", "UMLS:C1846059" ], "synonyms": [ "RFMN", "Roifman syndrome", "spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency", "spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome", "spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014722" }, { "id": 15756, "label": "Seckel syndrome 9", "isLeaf": true, "isRoot": false, "parents": [ 19181, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070005", "GARD:0016158", "MEDGEN:907155", "OMIM:616777", "UMLS:C4225212" ], "synonyms": [ "SCKL9", "Seckel syndrome 9", "Seckel syndrome caused by mutation in TRAIP", "Seckel syndrome type 9", "TRAIP Seckel syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene." }, "child_count": 0, "reference_id": "MONDO:0014767" }, { "id": 15967, "label": "Seckel syndrome 10", "isLeaf": true, "isRoot": false, "parents": [ 19181, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070008", "GARD:0018484", "MEDGEN:934614", "OMIM:617253", "UMLS:C4310647" ], "synonyms": [ "NSMCE2 Seckel syndrome", "SCKL10", "Seckel syndrome 10", "Seckel syndrome caused by mutation in NSMCE2", "Seckel syndrome type 10" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene." }, "child_count": 0, "reference_id": "MONDO:0014991" }, { "id": 17018, "label": "Kenny-Caffey syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080724", "GARD:0016594", "ICD9:759.89", "MEDGEN:75560", "MESH:C537020", "NCIT:C130991", "NORD:1325", "OMIMPS:127000", "Orphanet:2333", "SCTID:82837002", "UMLS:C0265291" ], "synonyms": [ "Kenny syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia." }, "child_count": 4, "reference_id": "MONDO:0016516" }, { "id": 17405, "label": "microcephalic osteodysplastic primordial dwarfism types I and III", "isLeaf": false, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005120", "MEDGEN:1380769", "Orphanet:2636", "SCTID:725461009", "UMLS:C4319565" ], "synonyms": [ "MOPD types I and III", "microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type", "primordial microcephalic dwarfism, Crachami type", "Taybi-Linder syndrome", "MOPD 1", "brachymelic primordial dwarfism", "cephaloskeletal dysplasia", "low-birth-weight dwarfism with skeletal dysplasia", "microcephalic osteodysplastic primordial dwarfism type 1", "microcephalic osteodysplastic primordial dwarfism types 1 and 3", "osteodysplastic primordial dwarfism type I" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome." }, "child_count": 4, "reference_id": "MONDO:0016994" }, { "id": 18729, "label": "microcephalic primordial dwarfism due to RTTN deficiency", "isLeaf": false, "isRoot": false, "parents": [ 4370, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017841", "MEDGEN:766745", "OMIM:614833", "Orphanet:468631", "UMLS:C3553831" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported." }, "child_count": 2, "reference_id": "MONDO:0018764" }, { "id": 19236, "label": "microcephalic osteodysplastic dysplasia, Saul-Wilson type", "isLeaf": true, "isRoot": false, "parents": [ 2903, 7153, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111673", "GARD:0016736", "MEDGEN:1375647", "OMIM:618150", "Orphanet:85172", "UMLS:C4509877", "icd11.foundation:738688839" ], "synonyms": [ "SWILS", "Saul-Wilson syndrome", "microcephalic osteodysplastic dysplasia", "microcephalic osteodysplastic dysplasia, Saul-Wilson type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1." }, "child_count": 0, "reference_id": "MONDO:0019407" }, { "id": 22359, "label": "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency", "isLeaf": true, "isRoot": false, "parents": [ 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025721", "MEDGEN:1684464", "OMIM:618336", "UMLS:C5193036" ], "synonyms": [ "IMAGE-I syndrome", "IMAGEI", "INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY", "Imagei Syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032684" } ], "roots": [ { "id": 18360, "label": "skeletal dysplasia" } ] }