{ "id": 16704, "label": "syndromic microphthalmia", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0016073", "properties": { "xrefs": [ "DOID:0080636", "GARD:0020342", "MEDGEN:1826052", "OMIMPS:309800", "Orphanet:202948", "UMLS:C5679782" ], "synonyms": [ "microphthalmia, syndromic", "syndrome associated with microphthalmia", "syndromic microphthalmia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A microphthalmia that is part of a larger syndrome." }, "isLeaf": false, "isRoot": false, "child_count": 19, "parents": [ { "id": 4370, "label": "syndromic disease", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:225", "MEDGEN:11688", "MESH:D013577", "NCIT:C28193", "OGMS:0000086", "UMLS:C0039082" ], "synonyms": [ "cluster, symptom", "clusters, symptom", "symptom cluster", "symptom clusters", "syndrome", "syndrome associated with disease or disorder", "syndromes", "syndromic disease", "syndromic disease or disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." }, "child_count": 1182, "reference_id": "MONDO:0002254" }, { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "id": 20367, "label": "microphthalmia", "isLeaf": false, "isRoot": false, "parents": [ 24305 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10629", "EFO:0005569", "HP:0000568", "ICD9:743.1", "ICD9:743.10", "ICD9:743.11", "MEDGEN:10033", "MESH:D008850", "NCIT:C98989", "SCTID:204108000", "UMLS:C0026010" ], "synonyms": [ "microphthalmia", "microphthalmos", "nanophthalmos" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Congenital or developmental anomaly in which the eyeballs are abnormally small." }, "child_count": 5, "reference_id": "MONDO:0021129" } ], "children": [ { "id": 10070, "label": "anophthalmia/microphthalmia-esophageal atresia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088, 16704 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111801", "GARD:0001443", "ICD9:758.5", "MEDGEN:347232", "OMIM:206900", "Orphanet:77298", "SCTID:698851003", "UMLS:C1859773" ], "synonyms": [ "MCOPS3", "anophthalmia/microphthalmia-esophageal atresia syndrome", "microphthalmia, syndromic type 3", "syndromic microphthalmia type 3", "Aeg syndrome", "SOX2 anophthalmia syndrome", "SOX2-related eye disorders", "anophthalmia clinical with associated anomalies", "anophthalmia esophageal genital syndrome", "anophthalmia microphthalmia esophageal atresia", "anophthalmia, clinical, with associated anomalies", "anophthalmia-esophageal-genital syndrome", "microphthalmia and esophageal atresia syndrome", "microphthalmia, syndromic 3", "optic nerve hypoplasia and abnormalities of the central nervous system", "syndromic microphthalmia, type 3" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." }, "child_count": 0, "reference_id": "MONDO:0008799" }, { "id": 10189, "label": "COFS syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7611, 16704, 20416 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080910", "GARD:0006027", "MEDGEN:1762238", "NCIT:C3817", "NORD:913", "OMIMPS:214150", "Orphanet:1466", "UMLS:C5399761" ], "synonyms": [ "COFS", "Cerebro Oculo Facio Skeletal Syndrome", "Pena-Shokeir syndrome type 2", "cerebro-oculo-facio-skeletal syndrome", "cerebrooculofacioskeletal syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement." }, "child_count": 15, "reference_id": "MONDO:0008926" }, { "id": 11435, "label": "microphthalmia, syndromic 2", "isLeaf": true, "isRoot": false, "parents": [ 16704 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111809", "GARD:0004628", "ICD9:759.89", "MEDGEN:337547", "OMIM:300166", "Orphanet:2712", "SCTID:699300009", "UMLS:C1846265" ], "synonyms": [ "OFCD syndrome", "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome", "microphthalmia syndromic 2", "microphthalmia, syndromic 2", "microphthalmia, syndromic 2, X-linked dominant", "microphthalmia, syndromic type 2", "oculofaciocardiodental syndrome", "ANOP2 (formerly)", "MAA2 (formerly)", "MCOPS2", "microphthalmia cataracts radiculomegaly and septal heart defects", "microphthalmia, cataracts, radiculomegaly, and septal heart defects", "syndromic microphthalmia type 2" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0010261" }, { "id": 11643, "label": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2902, 16087, 16704 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111811", "GARD:0017709", "MEDGEN:813072", "OMIM:300915", "Orphanet:431140", "UMLS:C3806742" ], "synonyms": [ "X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome", "microphthalmia, syndromic type 13", "MCOPS13", "Maine microphthalmos", "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation", "microphthalmia, syndromic 13" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus." }, "child_count": 0, "reference_id": "MONDO:0010485" }, { "id": 11816, "label": "microphthalmia, syndromic 1", "isLeaf": true, "isRoot": false, "parents": [ 16704, 23873 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111799", "GARD:0015304", "ICD9:759.89", "MEDGEN:162898", "MESH:C537464", "MESH:C564457", "OMIM:309800", "Orphanet:85275", "SCTID:438504004", "SCTID:717222003", "UMLS:C0796016" ], "synonyms": [ "ANOP1, formerly", "Lenz dysplasia", "Lenz microphthalmia syndrome", "MAA, formerly", "MCOPS1", "MCOPS4", "MCOPS4, formerly", "microphthalmia syndromic 4", "microphthalmia with ankyloblepharon and intellectual disability", "microphthalmia with ankyloblepharon and mental retardation", "microphthalmia, syndromic 1", "microphthalmia, syndromic 4, formerly", "microphthalmia, syndromic type 1", "syndromic microphthalmia type 4" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0010671" }, { "id": 11817, "label": "linear skin defects with multiple congenital anomalies", "isLeaf": false, "isRoot": false, "parents": [ 16704, 19143, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111875", "GARD:0003659", "MESH:C537466", "OMIMPS:309801", "Orphanet:2556", "SCTID:721879006" ], "synonyms": [ "MCOPS7", "MIDAS syndrome", "MLS syndrome", "linear skin defects with multiple congenital anomalies", "linear skin defects with multiple congenital anomalies type 1", "microphthalmia with linear skin defects syndrome", "microphthalmia-dermal aplasia-sclerocornea syndrome", "syndromic microphthalmia type 7", "LSDMCA1", "Micropthalmia syndromic 7", "linear skin defects with multiple congenital anomalies 1", "microphthalmia dermal aplasia and sclerocornea syndrome" ], "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 genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms." }, "child_count": 9, "reference_id": "MONDO:0010672" }, { "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": 12171, "label": "MMEP syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16704 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111803", "GARD:0003693", "MEDGEN:330469", "MESH:C537686", "OMIM:601349", "Orphanet:3434", "SCTID:715533002", "UMLS:C1832440" ], "synonyms": [ "MCOPS8", "Viljoen-Smart syndrome", "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome", "syndromic microphthalmia type 8", "MMEP", "Viljoen Smart syndrome", "microcephaly microphthalmia ectrodactyly of lower limbs and prognathism", "microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism", "microphthalmia syndromic 8", "microphthalmia, syndromic 8" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies." }, "child_count": 0, "reference_id": "MONDO:0011045" }, { "id": 13010, "label": "microphthalmia with brain and digit anomalies", "isLeaf": true, "isRoot": false, "parents": [ 16704, 24335 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111805", "GARD:0003645", "MEDGEN:355268", "MESH:C566440", "OMIM:607932", "Orphanet:139471", "SCTID:721878003", "UMLS:C1864689" ], "synonyms": [ "Bakrania-Ragge syndrome", "MCOPS6", "microphthalmia with brain and digit anomalies", "microphthalmia, syndromic type 6", "syndromic microphthalmia type 6", "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia", "anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia", "microphthalmia and pituitary anomalies", "microphthalmia syndromic 6", "microphthalmia with brain and digit developmental anomalies", "microphthalmia, syndromic 6" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development." }, "child_count": 0, "reference_id": "MONDO:0011936" }, { "id": 13464, "label": "syndromic microphthalmia type 5", "isLeaf": true, "isRoot": false, "parents": [ 16704 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111806", "GARD:0003692", "MEDGEN:350491", "MESH:C566441", "OMIM:610125", "Orphanet:178364", "SCTID:718761007", "UMLS:C1864690" ], "synonyms": [ "MCOPS5", "OTX2 syndromic microphthalmia", "microphthalmia, syndromic type 5", "syndromic microphthalmia caused by mutation in OTX2", "syndromic microphthalmia type 5", "syndromic microphthalmia/anophthalmia due to OTX2 mutation", "OTX2-related eye disorders", "microphthalmia syndromic 5", "microphthalmia, syndromic 5", "retinal dystrophy, early-onset, with or without pituitary dysfunction" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." }, "child_count": 0, "reference_id": "MONDO:0012413" }, { "id": 13682, "label": "microphthalmia-brain atrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16704, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111812", "GARD:0009292", "MEDGEN:370809", "MESH:C566985", "OMIM:611222", "Orphanet:77299", "SCTID:720010009", "UMLS:C1970013" ], "synonyms": [ "MCOPS10", "MOBA syndrome", "syndromic microphthalmia type 10", "MOBA", "microphthalmia and brain atrophy", "microphthalmia syndromic 10", "microphthalmia, syndromic 10" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter." }, "child_count": 0, "reference_id": "MONDO:0012638" }, { "id": 13842, "label": "oculoauricular syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16704 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060482", "GARD:0016988", "MEDGEN:393758", "MESH:C567416", "OMIM:612109", "Orphanet:157962", "UMLS:C2677500" ], "synonyms": [ "oculoauricular syndrome", "OCACS", "Schorderet-Munier-Franceschetti syndrome", "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear", "oculoauricular syndrome, Schorderet type" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia)." }, "child_count": 0, "reference_id": "MONDO:0012802" }, { "id": 14754, "label": "microphthalmia, syndromic 11", "isLeaf": true, "isRoot": false, "parents": [ 16704 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111804", "GARD:0024943", "MEDGEN:765991", "OMIM:614402", "UMLS:C3553077" ], "synonyms": [ "VAX1 syndromic microphthalmia", "microphthalmia, syndromic 11", "microphthalmia, syndromic type 11", "syndromic microphthalmia caused by mutation in VAX1", "MCOPS11" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene." }, "child_count": 0, "reference_id": "MONDO:0013734" }, { "id": 15235, "label": "microphthalmia, syndromic 12", "isLeaf": true, "isRoot": false, "parents": [ 16704 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111800", "GARD:0013235", "MEDGEN:816133", "OMIM:615524", "Orphanet:689829", "UMLS:C3809803" ], "synonyms": [ "RARB syndromic microphthalmia", "microphthalmia, syndromic 12", "microphthalmia, syndromic type 12", "syndromic microphthalmia caused by mutation in RARB", "MCOPS12", "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects", "syndromic microphthalmia-12" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome." }, "child_count": 0, "reference_id": "MONDO:0014229" }, { "id": 15382, "label": "colobomatous microphthalmia-rhizomelic dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16704, 18360 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111802", "GARD:0017707", "MEDGEN:862977", "OMIM:615877", "Orphanet:424099", "UMLS:C4014540" ], "synonyms": [ "microphthalmia, syndromic type 14", "microphthalmia-coloboma-rhizomelic skeletal dysplasia", "MCOPS14", "MCSKS", "microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia", "microphthalmia or coloboma with or without rhizomelic skeletal dysplasia", "microphthalmia, syndromic 14", "microphthalmia/coloboma and skeletal dysplasia syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present." }, "child_count": 0, "reference_id": "MONDO:0014380" }, { "id": 18848, "label": "microphthalmia, Lenz type", "isLeaf": true, "isRoot": false, "parents": [ 16704 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000087", "NORD:1359", "Orphanet:568", "icd11.foundation:678242327" ], "synonyms": [ "Lenz Microphthalmia Syndrome", "Lenz microphthalmia", "Lenz microphthamia syndrome", "Lenz dysplasia", "MAA (formerly)", "MCOPS1", "microphthalmia Lenz type", "microphthalmia or anophthalmos with associated anomalies (formerly)", "microphthalmia syndromic 1", "syndromic microphthalmia type 1" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome." }, "child_count": 0, "reference_id": "MONDO:0018924" }, { "id": 20888, "label": "Behrens Baumann dust syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4515, 16704, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004021", "MEDGEN:444092", "MESH:C537670", "UMLS:C2931582" ], "synonyms": [ "Behrens-Baumann-Vogel syndrome", "oculo-cerebral dysplasia", "microphthalmia-optic nerve dysplasia", "unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0022557" }, { "id": 23142, "label": "microphthalmia microtia fetal akinesia", "isLeaf": true, "isRoot": false, "parents": [ 16094, 16704, 23110 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003650", "MEDGEN:444005", "MESH:C536513", "Orphanet:2547", "UMLS:C2931224" ], "synonyms": [ "Thomas Jewett Raines syndrome", "Thomas-Jewett-Raines syndrome", "fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus", "foetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus", "microphthalmia-microtia-fetal akinesia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0043143" }, { "id": 24642, "label": "RAB18 deficiency", "isLeaf": false, "isRoot": false, "parents": [ 16704 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026395", "MEDGEN:1650928", "UMLS:C4750414" ], "synonyms": [ "Warburg micro spectrum" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Group of diseases encompassing a spectrum of disorders characterized by Warburg Micro Syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf Syndrome phenotypes (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus." }, "child_count": 2, "reference_id": "MONDO:0700247" } ], "roots": [ { "id": 4370, "label": "syndromic disease" }, { "id": 5714, "label": "hereditary disease" }, { "id": 20367, "label": "microphthalmia" } ] }