{ "id": 19742, "label": "X-linked syndromic intellectual disability", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0020119", "properties": { "xrefs": [ "DOID:0060309", "OMIMPS:309510", "Orphanet:98464" ], "synonyms": [ "X-linked syndromic intellectual disability", "intellectual disability, X-linked syndromic", "mental retardation, X-linked syndromic", "syndromic X-linked intellectual disability", "syndromic intellectual disability, X-linked" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndromic intellectual disability with an X-linked mode of inheritance." }, "isLeaf": false, "isRoot": false, "child_count": 81, "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": 24021, "label": "X-linked intellectual disability", "isLeaf": false, "isRoot": false, "parents": [ 2902, 3324, 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:211749", "UMLS:C1136249" ], "synonyms": [ "X-linked intellectual disability" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations." }, "child_count": 6, "reference_id": "MONDO:0100284" } ], "children": [ { "id": 11412, "label": "X-linked intellectual disability-psychosis-macroorchidism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060827", "GARD:0003506", "ICD9:758.89", "MEDGEN:163232", "OMIM:300055", "Orphanet:3077", "SCTID:702356009", "UMLS:C0796222" ], "synonyms": [ "Lindsay-Burn syndrome", "MRXS13", "PPM-X", "X-linked intellectual disability 79", "X-linked intellectual disability with spasticity", "intellectual developmental disorder, X-linked, syndromic 13, X-linked recessive", "intellectual disability with psychosis, pyramidal signs, and macroorchidism", "intellectual disability, X-linked, syndromic 13", "intellectual disability, X-linked, syndromic type 13", "mental retardation with psychosis, pyramidal signs, and macroorchidism", "mental retardation, X-linked, syndromic 13", "mental retardation, X-linked, syndromic type 13", "PPM-X syndrome", "intellectual deficit, X-linked - psychosis - macroorchidism", "intellectual disability psychosis macroorchidism", "intellectual disability, X-linked 16", "intellectual disability, X-linked 79", "intellectual disability, X-linked, with spasticity", "mental retardation psychosis macroorchidism", "mental retardation, X-linked 16", "mental retardation, X-linked 79", "mental retardation, X-linked, with spasticity" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010235" }, { "id": 11414, "label": "X-linked intellectual disability-plagiocephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 16201, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002765", "MEDGEN:419824", "MESH:C537512", "OMIM:300064", "Orphanet:2898", "SCTID:719812008", "UMLS:C2931516" ], "synonyms": [ "Hyde Forster-McCarthy-Berry syndrome", "Hyde Forster McCarthy Berry syndrome", "intellectual disability, X-linked Hyde-Forster type", "intellectual disability, X-linked, Hyde-Forster type", "intellectual disability, X-linked, with craniofacial dysmorphism", "intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features", "mental retardation, X-linked Hyde-Forster type", "mental retardation, X-linked, Hyde-Forster type", "mental retardation, X-linked, with craniofacial dysmorphism", "mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features", "plagiocephaly and X-linked intellectual disability", "plagiocephaly and X-linked mental retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0010237" }, { "id": 11425, "label": "intellectual disability, X-linked 49", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112060", "GARD:0017880", "MEDGEN:923000", "OMIM:300114", "Orphanet:485350", "UMLS:C0796221" ], "synonyms": [ "CLCN4-related X-linked intellectual disability syndrome", "MRX49", "Raynaud-Claes syndrome, X-linked dominant", "intellectual disability, X-linked 15", "intellectual disability, X-linked 49", "mental retardation, X-linked 15", "mental retardation, X-linked 49" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010250" }, { "id": 11432, "label": "MEHMO syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060801", "GARD:0009178", "MEDGEN:375855", "MESH:C537451", "OMIM:300148", "OMIM:300987", "Orphanet:85282", "SCTID:722037004", "UMLS:C1846278", "icd11.foundation:500681653" ], "synonyms": [ "MEHMO", "MEHMO syndrome", "MEHMO syndrome, X-linked recessive", "MRXS20", "MRXS25", "MRXSBRK", "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome", "intellectual disability, X-linked, syndromic 20", "intellectual disability, X-linked, syndromic 25", "intellectual disability, X-linked, syndromic, Borck type", "intellectual disability, X-linked, syndromic, Borck type; MRXSBRK", "intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity", "mental retardation, X-linked, syndromic, Borck type", "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity", "syndromic X-linked intellectual disability 20", "syndromic X-linked intellectual disability 25", "X-linked MEHMO syndrome", "mental retardation, X-linked, syndromic 20", "mental retardation, X-linked, syndromic 25" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction." }, "child_count": 0, "reference_id": "MONDO:0010258" }, { "id": 11444, "label": "syndromic X-linked intellectual disability 7", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060808", "GARD:0009156", "MEDGEN:337403", "MESH:C537449", "OMIM:300218", "Orphanet:85274", "SCTID:719160009", "UMLS:C1846170" ], "synonyms": [ "MRXS7", "X-linked intellectual disability, Ahmad type", "intellectual disability, X-linked syndromic 7", "syndromic X-linked intellectual disability type 7", "Ahmad X-linked intellectual disability syndrome", "Ahmad X-linked mental retardation syndrome", "intellectual disability X-linked syndromic 7", "intellectual disability, X-linked, syndromic 7", "intellectual disability, obesity, hypogonadism, and tapering fingers", "mental retardation X-linked syndromic 7", "mental retardation, X-linked, syndromic 7", "mental retardation, obesity, hypogonadism, and tapering fingers" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers." }, "child_count": 0, "reference_id": "MONDO:0010270" }, { "id": 11450, "label": "syndromic X-linked intellectual disability Shashi type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060826", "GARD:0004119", "MEDGEN:335348", "MESH:C537135", "OMIM:300238", "Orphanet:85286", "SCTID:718900002", "UMLS:C1846145" ], "synonyms": [ "MRXS11", "SMRXS", "Shashi X-linked intellectual disability syndrome", "Shashi X-linked mental retardation syndrome", "X-linked intellectual disability Shashi type", "intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive", "intellectual disability, X-linked, syndromic 11, Shashi type", "syndromic X-linked intellectual disability type 11", "X-linked intellectual disability, Shashi type", "intellectual disability X-linked Shashi type", "intellectual disability X-linked syndromic 11", "intellectual disability, X-linked, Shashi type", "intellectual disability, X-linked, syndromic 11", "mental retardation X-linked Shashi type", "mental retardation X-linked syndromic 11", "mental retardation, X-linked, Shashi type", "mental retardation, X-linked, syndromic 11" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0010277" }, { "id": 11456, "label": "syndromic X-linked intellectual disability Lubs type", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16087, 17413, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:45", "DOID:0060799", "GARD:0009781", "ICD9:758.89", "MEDGEN:337496", "MESH:C537723", "NANDO:2200984", "NCIT:C126747", "OMIM:300260", "Orphanet:1762", "SCTID:702816000", "UMLS:C1846058" ], "synonyms": [ "Lubs X-linked intellectual disability syndrome", "Lubs X-linked mental retardation syndrome", "MECP2 duplication syndrome", "MRXSL", "Xq28 (MECP2) duplication", "distal duplication Xq", "intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive", "intellectual disability, X-linked, syndromic, Lubs type", "intellectual disability, X-linked, with recurrent respiratory infections", "mental retardation, X-linked, with recurrent respiratory infections", "syndromic X-linked intellectual disability Lubs type", "telomeric duplication Xq", "Lubs X-linked intellectual disability syndrome (formerly)", "Lubs X-linked mental retardation syndrome (formerly)", "MECP2 Duplication syndrome", "XLMR syndrome, Lubs type", "intellectual disability, X-linked, Lubs type (formerly)", "mental retardation, X-linked, Lubs type (formerly)", "trisomy Xq28" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown." }, "child_count": 4, "reference_id": "MONDO:0010283" }, { "id": 11458, "label": "syndromic X-linked intellectual disability Abidi type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060818", "GARD:0009157", "MEDGEN:337376", "MESH:C535556", "OMIM:300262", "Orphanet:85273", "UMLS:C1846056" ], "synonyms": [ "MRXSAB", "intellectual disability, X-linked syndromic, Abidi type", "ABIDI X-linked intellectual disability syndrome", "ABIDI X-linked mental retardation syndrome", "X-linked intellectual disability, Abidi type", "intellectual disability X-linked Abidi type", "intellectual disability, X-linked, syndromic, Abidi type", "mental retardation, X-linked, syndromic, Abidi type", "short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations." }, "child_count": 0, "reference_id": "MONDO:0010285" }, { "id": 11459, "label": "syndromic X-linked intellectual disability Siderius type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060812", "GARD:0009704", "MEDGEN:337375", "MESH:C537333", "OMIM:300263", "Orphanet:85287", "UMLS:C1846055" ], "synonyms": [ "MRXSSD", "Siderius X-linked intellectual disability syndrome", "Siderius X-linked mental retardation syndrome", "Siderius-Hamel syndrome", "intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive", "intellectual disability syndrome, X-linked, Siderius type", "syndromic X-linked intellectual disability Siderius type", "Siderius Hamel syndrome", "X-linked intellectual disability Hamel type", "X-linked intellectual disability, Siderius type", "X-linked mental retardation Hamel type", "intellectual deficit X-linked Siderius type", "intellectual disability X-linked Siderius type", "intellectual disability, X-linked, syndromic, Siderius type", "mental retardation X-linked Siderius type", "mental retardation, X-linked, syndromic, Siderius type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010286" }, { "id": 11476, "label": "X-linked intellectual disability, Cabezas type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060822", "GARD:0013244", "MEDGEN:337334", "OMIM:300354", "Orphanet:85293", "SCTID:719811001", "UMLS:C1845861" ], "synonyms": [ "Cabezas syndrome", "Cabezas syndrome; syndromic X-linked intellectual disability 15", "MRSS", "MRXS15", "MRXSC", "X-linked intellectual disability with short stature", "X-linked intellectual disability with short stature, hypogonadism, and abnormal gait", "X-linked intellectual disability, Cabezas type", "intellectual disability, X-linked, syndromic 15 (Cabezas type)", "intellectual disability, X-linked, with short stature", "mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive", "mental retardation, X-linked, with short stature", "syndromic X-linked intellectual disability Cabezas type", "Cabezas type of X-linked syndromic intellectual disability", "Cul4B-related X-linked intellectual disability", "intellectual disability, X-linked, syndromic 15", "intellectual disability, X-linked, syndromic, Cabezas type", "intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait", "mental retardation, X-linked, syndromic 15", "mental retardation, X-linked, syndromic, Cabezas type", "mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0010306" }, { "id": 11495, "label": "X-linked intellectual disability, Stocco dos Santos type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112126", "GARD:0001133", "MEDGEN:335202", "MESH:C537495", "OMIM:300434", "Orphanet:85288", "SCTID:718910006", "UMLS:C1845530" ], "synonyms": [ "intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type", "SDSX", "Sdsx", "Stocco DOS Santos X-linked intellectual disability syndrome", "Stocco DOS Santos X-linked mental retardation syndrome", "Stocco dos Santos syndrome", "intellectual disability, Stocco dos Santos type", "intellectual disability, X-linked, Stocco Dos Santos type", "mental retardation, Stocco dos Santos type", "mental retardation, X-linked, Stocco Dos Santos type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010325" }, { "id": 11501, "label": "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016745", "MEDGEN:1801270", "MESH:C564510", "OMIM:300471", "Orphanet:85280", "UMLS:C5677056" ], "synonyms": [ "Cubitus valgus with mental retardation and unusual facies, X-linked recessive", "cubitus valgus with intellectual disability and unusual facies", "cubitus valgus with mental retardation and unusual facies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive." }, "child_count": 0, "reference_id": "MONDO:0010332" }, { "id": 11502, "label": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060816", "GARD:0012486", "MEDGEN:335185", "MESH:C564509", "OMIM:300472", "Orphanet:52055", "SCTID:722282008", "UMLS:C1845446" ], "synonyms": [ "Graham-Cox syndrome", "MRXS28", "corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive", "corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia", "intellectual disability, X-linked, syndromic 28", "mental retardation, X-linked, syndromic 28", "agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome", "corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia", "corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." }, "child_count": 0, "reference_id": "MONDO:0010333" }, { "id": 11506, "label": "X-linked intellectual disability-cerebellar hypoplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19709, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080311", "GARD:0009947", "MEDGEN:336920", "MESH:C537456", "OMIM:300486", "Orphanet:137831", "SCTID:719136005", "UMLS:C1845366" ], "synonyms": [ "OPHN1 syndrome", "Oligophrenin-1 syndrome", "X-linked intellectual disability-cerebellar hypoplasia syndrome", "intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive", "MRX60 (formerly)", "OPHN1 XLMR", "OPHN1 XLMR, X-linked intellectual disability", "OPHN1 deficiency", "OPHN1- related XLID", "X-linked intellectual Deficit with cerebellar Hypoplasia", "intellectual disability X-linked 60 (formerly)", "intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance", "intellectual disability, X-linked 60", "intellectual disability, X-linked 60, formerly", "intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance", "mental retardation X-linked 60 (formerly)", "mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance", "mental retardation, X-linked 60", "mental retardation, X-linked 60, formerly", "mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." }, "child_count": 0, "reference_id": "MONDO:0010337" }, { "id": 11521, "label": "Allan-Herndon-Dudley syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050631", "GARD:0005617", "MEDGEN:208645", "MESH:C537047", "NANDO:1200580", "NANDO:2201292", "NCIT:C118843", "NORD:1415", "OMIM:300523", "Orphanet:59", "SCTID:702327009", "UMLS:C0795889", "icd11.foundation:56813604" ], "synonyms": [ "AHDS", "ALLAN-Herndon syndrome", "Allan-Herndon-Dudley syndrome", "MCT8 deficiency", "MCT8-Specific Thyroid Hormone Cell Transporter Deficiency", "MCT8-specific thyroid hormone cell Membrane transporter deficiency", "X-linked intellectual disability-hypotonia syndrome", "monocarboxylate transporter 8 deficiency", "ALLAN-Herndon-DUDLEY syndrome", "Allan-Herndon syndrome", "T3 resisitence", "T3 resistance", "X-linked intellectual disability with hypotonia", "intellectual disability and muscular atrophy", "intellectual disability, X-linked, with hypotonia", "mental retardation and muscular atrophy", "mental retardation, X-linked, with hypotonia", "monocarboxylate transporter-8 deficiency", "triiodothyronine resistance" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency." }, "child_count": 0, "reference_id": "MONDO:0010354" }, { "id": 11522, "label": "syndromic X-linked intellectual disability Claes-Jensen type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060809", "GARD:0016744", "MEDGEN:335139", "MESH:C564494", "OMIM:300534", "Orphanet:85279", "SCTID:719161008", "UMLS:C1845243" ], "synonyms": [ "MRXSCJ", "MRXSJ", "intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive", "intellectual disability, X-linked, syndromic, Claes-Jensen type", "mental retardation, X-linked, syndromic, Claes-Jensen type", "syndromic X-linked intellectual disability Claes-Jensen type", "syndromic X-linked intellectual disability JARID1C-related", "intellectual disability, X-linked, syndromic, JARID1C-related", "mental retardation, X-linked, syndromic, JARID1C-related" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010355" }, { "id": 11530, "label": "X-linked intellectual disability-retinitis pigmentosa syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17409, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008360", "MEDGEN:336862", "OMIM:300578", "Orphanet:85332", "SCTID:719808002", "UMLS:C1845136" ], "synonyms": [ "Aldred syndrome", "chromosome xp11.3 deletion syndrome, X-linked recessive", "retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion", "retinitis pigmentosa and intellectual disability due to del(X)(p11.3)", "retinitis pigmentosa and intellectual disability due to monosomy Xp11.3", "X-linked mental handicap-retinitis pigmentosa syndrome", "chromosome Xp11.3 deletion syndrome", "intellectual disability, X-linked, with retinitis pigmentosa", "mental retardation, X-linked, with retinitis pigmentosa", "nonspecific intellectual disability associated with retinitis pigmentosa", "nonspecific mental retardation associated with retinitis pigmentosa" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait." }, "child_count": 0, "reference_id": "MONDO:0010364" }, { "id": 11559, "label": "syndromic X-linked intellectual disability 14", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060821", "GARD:0024723", "MEDGEN:372646", "MESH:C567063", "OMIM:300676", "UMLS:C1970822" ], "synonyms": [ "UPF3B X-linked syndromic intellectual disability", "X-linked syndromic intellectual disability caused by mutation in UPF3B", "intellectual developmental disorder, X-linked syndromic 14, X-linked recessive", "intellectual disability, X-linked, syndromic 14", "intellectual disability, X-linked, syndromic type 14", "mental retardation, X-linked, syndromic 14", "mental retardation, X-linked, syndromic type 14", "syndromic X-linked intellectual disability 14", "syndromic X-linked intellectual disability type 14", "MRXS14" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene." }, "child_count": 0, "reference_id": "MONDO:0010398" }, { "id": 11563, "label": "syndromic X-linked intellectual disability 94", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060823", "GARD:0027794", "MEDGEN:437111", "MESH:C567479", "OMIM:300699", "Orphanet:364028", "UMLS:C2678051" ], "synonyms": [ "MRX94", "MRXS29", "intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessive", "intellectual disability, X-linked 94", "mental retardation, X-linked 94", "syndromic X-linked intellectual disability 29", "syndromic X-linked intellectual disability 94", "syndromic X-linked intellectual disability Wu type", "syndromic X-linked intellectual disability type 94", "MRXSW", "intellectual disability, X-linked, syndromic 29", "intellectual disability, X-linked, syndromic, Wu type", "mental retardation, X-linked, syndromic 29", "mental retardation, X-linked, syndromic, Wu type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25." }, "child_count": 0, "reference_id": "MONDO:0010402" }, { "id": 11568, "label": "intellectual disability, X-linked syndromic, Turner type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060811", "DOID:0060829", "GARD:0000081", "MEDGEN:394425", "MESH:C563154", "MESH:C567476", "OMIM:300612", "OMIM:300706", "OMIM:309590", "Orphanet:3056", "Orphanet:85328", "SCTID:725912001", "UMLS:C2678046" ], "synonyms": [ "Brooks Wisniewski Brown syndrome", "Brooks-Wisniewski-Brown Syndrome", "Brooks-Wisniewski-Brown syndrome", "MRXST", "X-linked intellectual disability, Turner type", "intellectual disability, X-linked syndromic, Turner type", "mental retardation and macrocephaly syndrome", "mental retardation, X-linked, syndromic, Turner type", "Juberg-Marsidi Syndrome", "X-linked mental retardation Brooks type", "mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism", "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type", "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant." }, "child_count": 0, "reference_id": "MONDO:0010407" }, { "id": 11570, "label": "syndromic X-linked intellectual disability Shrimpton type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060813", "GARD:0016751", "MEDGEN:395523", "MESH:C567474", "OMIM:300709", "Orphanet:85324", "UMLS:C2678039" ], "synonyms": [ "MRXS9", "intellectual disability, X-linked, syndromic 9", "mental retardation, X-linked, syndromic 9", "X-linked intellectual disability, Shrimpton type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome." }, "child_count": 0, "reference_id": "MONDO:0010409" }, { "id": 11573, "label": "X-linked intellectual disability-craniofacioskeletal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017009", "MEDGEN:394716", "MESH:C567471", "OMIM:300712", "Orphanet:163979", "UMLS:C2678036" ], "synonyms": [ "craniofacioskeletal syndrome, X-linked recessive, X-linked dominant", "craniofacioskeletal syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported." }, "child_count": 0, "reference_id": "MONDO:0010412" }, { "id": 11587, "label": "syndromic X-linked intellectual disability Raymond type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060824", "GARD:0015264", "MEDGEN:477037", "OMIM:300799", "UMLS:C3275406" ], "synonyms": [ "MRXSR", "intellectual disability, X-linked syndromic, Raymond type", "syndromic X-linked intellectual disability Raymond type", "intellectual disability, X-linked, syndromic, Raymond type", "mental retardation, X-linked, syndromic, Raymond type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1." }, "child_count": 0, "reference_id": "MONDO:0010427" }, { "id": 11619, "label": "syndromic X-linked intellectual disability 17", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060803", "GARD:0017326", "MEDGEN:477091", "OMIM:300858", "Orphanet:289483", "UMLS:C3275460" ], "synonyms": [ "X-linked intellectual disability with alacrima and achalasia", "intellectual disability, X-linked, syndromic 17", "intellectual disability-alacrima-achalasia syndrome", "mental retardation, X-linked, syndromic 17", "mental retardation, X-linked, syndromic 17, X-linked recessive", "syndromic X-linked intellectual disability type 17", "MRXS17", "intellectual disability, X-linked, with alacrima and achalasia", "mental retardation, X-linked, with alacrima and achalasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals." }, "child_count": 0, "reference_id": "MONDO:0010460" }, { "id": 11620, "label": "syndromic X-linked intellectual disability Nascimento type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060820", "GARD:0017005", "MEDGEN:477095", "OMIM:300860", "Orphanet:163956", "UMLS:C3275464" ], "synonyms": [ "X-linked intellectual disability-nail dystrophy-seizures syndrome", "intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive", "intellectual disability, X-linked syndromic, Nascimento-type", "syndromic X-linked intellectual disability Nascimento type", "MRXSN", "X-linked intellectual disability, Nascimento type", "intellectual disability, X-linked, syndromic 30", "intellectual disability, X-linked, syndromic, Nascimento type", "mental retardation, X-linked, syndromic 30", "mental retardation, X-linked, syndromic, Nascimento type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures." }, "child_count": 0, "reference_id": "MONDO:0010461" }, { "id": 11621, "label": "syndromic X-linked intellectual disability Chudley-Schwartz type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060819", "GARD:0024727", "MEDGEN:477102", "OMIM:300861", "UMLS:C3275471" ], "synonyms": [ "MRXSCS", "X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance", "intellectual disability, X-linked, syndromic, Chudley-Schwartz type", "mental retardation, X-linked, syndromic, Chudley-Schwartz type", "mental retardation, X-linked, syndromic, Chudley-Schwartz type, X-linked recessive", "intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance", "mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23." }, "child_count": 0, "reference_id": "MONDO:0010462" }, { "id": 11631, "label": "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060828", "GARD:0017485", "MEDGEN:763827", "OMIM:300886", "Orphanet:324410", "UMLS:C3550913" ], "synonyms": [ "MRXS32", "intellectual developmental disorder, X-linked syndromic 32, X-linked recessive", "intellectual disability, X-linked, syndromic 32", "intellectual disability, X-linked, syndromic type 32", "mental retardation, X-linked, syndromic 32", "mental retardation, X-linked, syndromic type 32" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28." }, "child_count": 0, "reference_id": "MONDO:0010473" }, { "id": 11641, "label": "X-linked intellectual disability, Cantagrel type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112044", "GARD:0016743", "MEDGEN:813060", "OMIM:300912", "Orphanet:85277", "SCTID:719016007", "UMLS:C3806730" ], "synonyms": [ "MRX98", "X-linked intellectual developmental disorder-98", "X-linked intellectual disability-98", "XLID98", "intellectual disability, X-linked 98", "intellectual disability, X-linked type 98", "mental retardation, X-linked 98", "mental retardation, X-linked type 98" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked syndromic intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism." }, "child_count": 0, "reference_id": "MONDO:0010483" }, { "id": 11654, "label": "X-linked intellectual disability-short stature-overweight syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112056", "GARD:0017800", "MEDGEN:901885", "OMIM:300957", "Orphanet:457240", "UMLS:C0796218" ], "synonyms": [ "intellectual developmental disorder, X-linked 12, X-linked recessive", "intellectual disability, X-linked type 12", "mental retardation, X-linked type 12", "MRX12", "intellectual disability, X-linked 12", "intellectual disability, X-linked 35", "mental retardation, X-linked 12", "mental retardation, X-linked 35" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted." }, "child_count": 0, "reference_id": "MONDO:0010496" }, { "id": 11658, "label": "intellectual disability, X-linked, syndromic 33", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024731", "MEDGEN:895979", "OMIM:300966", "Orphanet:480907", "UMLS:C4225418" ], "synonyms": [ "MRXS33", "TAF1 X-linked syndromic intellectual disability", "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome", "X-linked syndromic intellectual disability caused by mutation in TAF1", "intellectual developmental disorder, X-linked syndromic 33, X-linked recessive", "intellectual disability, X-linked, syndromic type 33", "mental retardation, X-linked, syndromic 33", "mental retardation, X-linked, syndromic type 33" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene." }, "child_count": 0, "reference_id": "MONDO:0010500" }, { "id": 11659, "label": "syndromic X-linked intellectual disability 34", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060817", "GARD:0017832", "MEDGEN:902184", "OMIM:300967", "Orphanet:466791", "UMLS:C4225417" ], "synonyms": [ "MRXS34", "MRXSML", "NONO X-linked syndromic intellectual disability", "X-linked syndromic intellectual disability caused by mutation in NONO", "intellectual developmental disorder, X-linked syndromic 34", "intellectual disability, X-linked, syndromic 34", "intellectual disability, X-linked, syndromic type 34", "macrocephaly-intellectual disability-left ventricular non compaction syndrome", "mental retardation, X-linked, syndromic 34", "mental retardation, X-linked, syndromic type 34", "syndromic X-linked intellectual disability Mircsof-Langouet type", "syndromic X-linked intellectual disability type 34", "intellectual disability, X-linked, syndromic, Mircsof-Langouet type", "mental retardation, X-linked, syndromic, Mircsof-Langouet type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported." }, "child_count": 0, "reference_id": "MONDO:0010501" }, { "id": 11660, "label": "intellectual disability, X-linked 99, syndromic, female-restricted", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112025", "GARD:0024732", "MEDGEN:899839", "OMIM:300968", "UMLS:C4225416" ], "synonyms": [ "MRXS99F", "USP9X X-linked syndromic intellectual disability", "X-linked syndromic intellectual disability caused by mutation in USP9X", "intellectual developmental disorder, X-linked 99, syndromic, female-restricted, X-linked dominant", "intellectual disability, X-linked 99, syndromic, female-restricted", "mental retardation, X-linked 99, syndromic, female-restricted" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene." }, "child_count": 0, "reference_id": "MONDO:0010502" }, { "id": 11670, "label": "intellectual disability, X-linked, syndromic, Bain type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070538", "GARD:0013442", "MEDGEN:934781", "OMIM:300986", "Orphanet:662198", "UMLS:C4310814" ], "synonyms": [ "MRXSB", "intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant", "intellectual disability, X-linked, syndromic, Bain type", "mental retardation, X-linked, syndromic, Bain type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010512" }, { "id": 11692, "label": "Borjeson-Forssman-Lehmann syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050681", "GARD:0000936", "ICD9:759.89", "MEDGEN:78557", "MESH:C536575", "NORD:866", "OMIM:301900", "Orphanet:127", "SCTID:21634003", "UMLS:C0265339" ], "synonyms": [ "BFLS", "BORJ", "Borjeson syndrome", "Borjeson-Forssman-Lehmann syndrome", "Borjeson-Forssman-Lehmann syndrome, X-linked recessive", "Börjeson-Forssman-Lehman Syndrome", "MRXSBFL", "intellectual disability, epilepsy, and endocrine disorder", "intellectual disability-epilepsy-endocrine disorders syndrome", "syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type", "Borjeson-FORSSMAN-Lehmann syndrome", "intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type", "intellectual disability, epilepsy, and endocrine disorders", "mental deficiency, epilepsy and endocrine disorders", "mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type", "mental retardation, epilepsy, and endocrine disorders" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." }, "child_count": 0, "reference_id": "MONDO:0010537" }, { "id": 11715, "label": "Coffin-Lowry syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3783", "GARD:0006123", "ICD9:759.89", "MEDGEN:75556", "MESH:C536435", "MESH:D038921", "NANDO:1200660", "NANDO:2200952", "NCIT:C84643", "NORD:983", "OMIM:303600", "Orphanet:192", "SCTID:15182000", "UMLS:C0265252", "icd11.foundation:380089065" ], "synonyms": [ "CLS", "Coffin Lowry Syndrome", "Coffin-Lowry syndrome", "Coffin-Lowry syndrome, X-linked dominant", "COFFIN-Lowry syndrome", "Coffin syndrome", "Coffin syndrome 1", "dwarfism, lean spastic type", "intellectual disability with osteocartilaginous abnormalities", "lean spastic dwarfism", "mental retardation with osteocartilaginous abnormalities" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe." }, "child_count": 0, "reference_id": "MONDO:0010561" }, { "id": 11728, "label": "syndromic X-linked intellectual disability 5", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19709, 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060800", "GARD:0008520", "MEDGEN:162924", "NCIT:C124839", "OMIM:304340", "Orphanet:1568", "Orphanet:85329", "SCTID:719139003", "UMLS:C0796254" ], "synonyms": [ "MRX59", "MRXS21", "Pettigrew syndrome", "Pettigrew syndrome, X-linked recessive", "X-linked intellectual disability 59", "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome", "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome", "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome", "intellectual disability, X-linked syndromic 5", "syndromic X-linked intellectual disability 21", "syndromic X-linked intellectual disability fried type", "syndromic X-linked intellectual disability type 5", "Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures", "MRXS5", "PETTIGREW syndrome", "PGS", "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures", "fried syndrome", "intellectual disability X-linked syndromic 5", "intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures", "intellectual disability, X-linked 59", "intellectual disability, X-linked, syndromic 21", "intellectual disability, X-linked, syndromic 5", "intellectual disability, X-linked, syndromic, fried type", "intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures", "mental retardation X-linked syndromic 5", "mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures", "mental retardation, X-linked 59", "mental retardation, X-linked, syndromic 21", "mental retardation, X-linked, syndromic 5", "mental retardation, X-linked, syndromic, fried type", "mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition." }, "child_count": 0, "reference_id": "MONDO:0010574" }, { "id": 11798, "label": "X-linked intellectual disability-seizures-psoriasis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005238", "MEDGEN:501947", "MESH:C536978", "OMIM:309480", "Orphanet:3052", "SCTID:719810000", "UMLS:C3501539" ], "synonyms": [ "Tranebjaerg-Svejgaard syndrome", "Tranebjaerg Svejgaard syndrome", "X-linked intellectual disability - seizures - psoriasis", "X-linked intellectual disability associated with psoriasis", "X-linked mental retardation associated with psoriasis", "intellectual disability X-linked, Tranebjaerg type seizures and psoriasis", "intellectual disability and psoriasis", "mental retardation X-linked, Tranebjaerg type seizures and psoriasis", "mental retardation and psoriasis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive." }, "child_count": 0, "reference_id": "MONDO:0010652" }, { "id": 11799, "label": "Renpenning syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060179", "GARD:0009509", "ICD9:759.89", "MEDGEN:208670", "MESH:C537761", "NCIT:C165533", "OMIM:309500", "Orphanet:3242", "SCTID:699669001", "UMLS:C0796135", "icd11.foundation:1415315699" ], "synonyms": [ "Golabi-Ito-Hall syndrome", "Renpenning syndrome", "Renpenning syndrome type 1", "Sutherland-Haan X-linked intellectual disability syndrome", "Sutherland-Haan X-linked mental retardation syndrome", "X-linked intellectual disability Renpenning type", "X-linked intellectual disability due to PQBP1 mutations", "X-linked intellectual disability with spastic diplegia", "X-linked intellectual disability, Renpenning type", "renpenning syndrome, X-linked recessive", "syndromic X-linked intellectual disability 8", "MRXS3", "MRXS8", "RENS1", "Renpenning syndrome 1", "Sutherland-Haan syndrome", "X-linked intellectual disability syndromic 3", "X-linked mental retardation syndromic 3", "intellectual disability, X-linked 55", "intellectual disability, X-linked Renpenning type", "intellectual disability, X-linked, Renpenning type", "intellectual disability, X-linked, syndromic 3", "intellectual disability, X-linked, syndromic 8", "intellectual disability, X-linked, with spastic diplegia", "mental retardation, X-linked 55", "mental retardation, X-linked Renpenning type", "mental retardation, X-linked, Renpenning type", "mental retardation, X-linked, syndromic 3", "mental retardation, X-linked, syndromic 8", "mental retardation, X-linked, with spastic diplegia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature." }, "child_count": 4, "reference_id": "MONDO:0010653" }, { "id": 11800, "label": "Partington syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14744", "GARD:0004235", "MEDGEN:163237", "OMIM:309510", "Orphanet:94083", "SCTID:702412005", "UMLS:C0796250" ], "synonyms": [ "Partington syndrome", "Partington syndrome, X-linked recessive", "Partington-Mulley syndrome", "X-linked intellectual disability-dystonia-dysarthria syndrome", "MRXS1", "PRTS", "Partington X-linked intellectual disability syndrome", "Partington X-linked mental retardation syndrome", "intellectual disability, X-linked 36", "intellectual disability, X-linked, syndromic 1", "intellectual disability, X-linked, with dystonic movements, ataxia, and seizures", "intellectual disability-dystonic movements-ataxia-seizures syndrome", "mental retardation, X-linked 36", "mental retardation, X-linked, syndromic 1", "mental retardation, X-linked, with dystonic movements, ataxia, and seizures" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person." }, "child_count": 0, "reference_id": "MONDO:0010654" }, { "id": 11804, "label": "syndromic X-linked intellectual disability 12", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060804", "GARD:0016747", "MEDGEN:333405", "MESH:C564106", "OMIM:309545", "Orphanet:85290", "SCTID:719009006", "UMLS:C1839792" ], "synonyms": [ "X-linked intellectual disability, Wilson type", "intellectual disability, X-linked, syndromic 12", "mental retardation, X-linked, syndromic 12", "syndromic X-linked intellectual disability type 12", "MRXS12" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0010658" }, { "id": 11807, "label": "severe X-linked intellectual disability, Gustavson type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081123", "GARD:0005611", "MEDGEN:167088", "MESH:C536759", "OMIM:309555", "Orphanet:3078", "SCTID:722213009", "UMLS:C0795965" ], "synonyms": [ "Gustavson syndrome", "X-linked intellectual disability Gustavson type", "X-linked mental retardation Gustavson type", "gust", "intellectual disability X-linked severe Gustavson type", "intellectual disability with optic atrophy, deafness, and seizures", "mental retardation X-linked severe Gustavson type", "mental retardation with optic atrophy, deafness, and seizures" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood." }, "child_count": 0, "reference_id": "MONDO:0010661" }, { "id": 11810, "label": "syndromic X-linked intellectual disability Snyder type", "isLeaf": true, "isRoot": false, "parents": [ 19742, 24863 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060802", "GARD:0005615", "ICD9:758.89", "MEDGEN:162918", "MESH:C536678", "NORD:1890", "OMIM:309583", "Orphanet:3063", "SCTID:702416008", "UMLS:C0796160" ], "synonyms": [ "SRS", "Snyder-Robinson Syndrome", "Snyder-Robinson intellectual disability syndrome", "Snyder-Robinson mental retardation syndrome", "Snyder-Robinson syndrome", "intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive", "intellectual disability, X-linked, Snyder-Robinson type", "syndromic X-linked intellectual disability Snyder type", "MRXSSR", "X-linked intellectual disability Snyder-Robinson type", "X-linked intellectual disability, Snyder type", "X-linked mental retardation Snyder-Robinson type", "intellectual disability, X-linked, syndromic, Snyder-Robinson type", "mental retardation, X-linked, syndromic, Snyder-Robinson type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed." }, "child_count": 0, "reference_id": "MONDO:0010664" }, { "id": 11811, "label": "Wilson-Turner syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060814", "GARD:0005579", "MEDGEN:333393", "MESH:C536708", "OMIM:309585", "Orphanet:3459", "SCTID:719834005", "UMLS:C1839736", "icd11.foundation:2015561482" ], "synonyms": [ "MRXS6", "WTS", "Wilson-Turner syndrome, X-linked recessive", "X-linked intellectual disability-gynecomastia-obesity syndrome", "intellectual disability, X-linked, syndromic 6", "intellectual disability, X-linked, with gynecomastia and obesity", "mental retardation, X-linked, syndromic 6", "mental retardation, X-linked, with gynecomastia and obesity", "Wilson Turner intellectual disability syndrome (formerly)", "Wilson Turner mental retardation syndrome (formerly)", "Wilson-TURNER X-linked intellectual disability syndrome", "Wilson-TURNER X-linked mental retardation syndrome", "X-linked intellectual disability - gynecomastia - obesity", "intellectual disability, X-linked, syndromic 6 (formerly)", "intellectual disability, X-linked, with gynecomastia and obesity (formerly)", "mental retardation, X-linked, syndromic 6 (formerly)", "mental retardation, X-linked, with gynecomastia and obesity (formerly)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature." }, "child_count": 0, "reference_id": "MONDO:0010665" }, { "id": 11812, "label": "Prieto syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060805", "GARD:0004482", "MEDGEN:374294", "MESH:C535274", "OMIM:309610", "Orphanet:2958", "SCTID:719140001", "UMLS:C1839730" ], "synonyms": [ "Prieto syndrome, X-linked recessive", "Prieto-Badia-Mulas syndrome", "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome", "MRXS2", "PRS", "Prieto X-linked intellectual disability syndrome", "Prieto X-linked mental retardation syndrome", "intellectual disability, X-linked, syndromic 2", "intellectual disability, X-linked, with Dysmorphism and cerebral atrophy", "mental retardation, X-linked, syndromic 2", "mental retardation, X-linked, with Dysmorphism and cerebral atrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "This syndrome is characterized by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth." }, "child_count": 0, "reference_id": "MONDO:0010667" }, { "id": 11813, "label": "skeletal dysplasia-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19472, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003520", "MEDGEN:326949", "MESH:C564101", "OMIM:309620", "Orphanet:1436", "SCTID:722478008", "UMLS:C1839729" ], "synonyms": [ "Christian syndrome", "mental retardation-skeletal dysplasia", "MRSD", "X-linked skeletal dysplasia-intellectual disability syndrome", "intellectual disability skeletal dysplasia abducens palsy", "intellectual disability, skeletal dysplasia, and abducens palsy", "mental retardation skeletal dysplasia abducens palsy", "mental retardation, skeletal dysplasia, and abducens palsy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked." }, "child_count": 0, "reference_id": "MONDO:0010668" }, { "id": 11815, "label": "X-linked intellectual disability-spastic quadriparesis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:374293", "MESH:C564099", "OMIM:309640", "Orphanet:163982", "UMLS:C1839727" ], "synonyms": [ "intellectual disability with spastic paraplegia", "mental retardation with spastic paraplegia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010670" }, { "id": 11851, "label": "early-onset parkinsonism-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742, 20335 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111781", "GARD:0003203", "MEDGEN:208674", "MESH:C537179", "OMIM:311510", "Orphanet:2379", "SCTID:716107009", "UMLS:C0796195", "icd11.foundation:937544163" ], "synonyms": [ "Laxova-Opitz syndrome", "Waisman syndrome", "Waisman syndrome, X-linked recessive", "early-onset parkinsonism-intellectual disability syndrome", "BGMR", "Laxova Brown hogan syndrome", "Parkinsonism, early onset with intellectual disability", "Parkinsonism, early onset with mental retardation", "Parkinsonism, early-onset, with intellectual disability", "Parkinsonism, early-onset, with mental retardation", "WAISMAN syndrome", "WSMN", "Wsn", "X-linked recessive basal ganglia disorder with intellectual disability", "X-linked recessive basal ganglia disorder with mental retardation", "basal ganglia disorder with intellectual disability", "basal ganglia disorder with mental retardation", "basal ganglion disorder with intellectual disability", "basal ganglion disorder with mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter." }, "child_count": 0, "reference_id": "MONDO:0010709" }, { "id": 11869, "label": "X-linked intellectual disability, Schimke type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009288", "MEDGEN:374193", "MESH:C536630", "OMIM:312840", "Orphanet:85285", "SCTID:719010001", "UMLS:C1839320" ], "synonyms": [ "Schimke X-linked intellectual disability syndrome", "Schimke X-linked mental retardation syndrome", "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness", "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness", "choreoathetosis with intellectual disability X- linked", "choreoathetosis with intellectual disability, X-linked", "choreoathetosis with mental retardation X- linked", "choreoathetosis with mental retardation, X-linked", "progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked." }, "child_count": 0, "reference_id": "MONDO:0010729" }, { "id": 16396, "label": "X-linked intellectual disability, Cilliers type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020054", "MEDGEN:930693", "Orphanet:163971", "SCTID:719013004", "UMLS:C4305024" ], "synonyms": [ "X-linked intellectual disability-microcephaly-testicular failure syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears)." }, "child_count": 0, "reference_id": "MONDO:0015600" }, { "id": 16397, "label": "X-linked intellectual disability, van Esch type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111840", "GARD:0017008", "MEDGEN:930741", "OMIM:301030", "Orphanet:163976", "SCTID:718914002", "UMLS:C4305072" ], "synonyms": [ "VEODS", "Van Esch-O'Driscoll syndrome", "Van Esch-O'Driscoll syndrome, X-linked recessive", "mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism." }, "child_count": 0, "reference_id": "MONDO:0015601" }, { "id": 16759, "label": "X-linked intellectual disability-epilepsy syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16437, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016584", "MEDGEN:1842841", "Orphanet:2076", "UMLS:C5680771" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 8, "reference_id": "MONDO:0016160" }, { "id": 17392, "label": "ATR-X-related syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:263355" ], "synonyms": [ "ATR-X-related syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A X-linked intellectual disability characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay/intellectual disability." }, "child_count": 2, "reference_id": "MONDO:0016980" }, { "id": 17891, "label": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000345", "MEDGEN:162925", "MESH:C536715", "Orphanet:3055", "UMLS:C0796264" ], "synonyms": [ "Young-Hughes syndrome", "Sex-linked intellectual disability, short stature, obesity and hypogonadism", "Sex-linked mental retardation, short stature, obesity and hypogonadism", "X-linked intellectual disability - short stature – obesity" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982." }, "child_count": 0, "reference_id": "MONDO:0017614" }, { "id": 17893, "label": "X-linked intellectual disability, Schutz type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:3062" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017616" }, { "id": 18692, "label": "X-linked intellectual disability-hypotonia-movement disorder syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012715", "MEDGEN:1814468", "Orphanet:457260", "UMLS:C5681121" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018709" }, { "id": 18944, "label": "X-linked intellectual disability with isolated growth hormone deficiency", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016677", "MEDGEN:341145", "Orphanet:67045", "UMLS:C1848068" ], "synonyms": [ "MRGH" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0019032" }, { "id": 19244, "label": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019053", "MEDGEN:930588", "Orphanet:85317", "UMLS:C4304919" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23." }, "child_count": 0, "reference_id": "MONDO:0019416" }, { "id": 19245, "label": "X-linked intellectual disability-precocious puberty-obesity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:85318" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-precocious puberty-obesity syndrome is characterized by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked." }, "child_count": 0, "reference_id": "MONDO:0019417" }, { "id": 19246, "label": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019054", "MEDGEN:930586", "Orphanet:85319", "UMLS:C4304917" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked." }, "child_count": 0, "reference_id": "MONDO:0019418" }, { "id": 19247, "label": "X-linked intellectual disability-macrocephaly-macroorchidism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019055", "MEDGEN:930075", "Orphanet:85320", "SCTID:719825000", "UMLS:C4304406" ], "synonyms": [ "Johnson syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterized by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localized to the q12-q21 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0019419" }, { "id": 19248, "label": "X-linked intellectual disability, Pai type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019056", "MEDGEN:930695", "Orphanet:85322", "SCTID:719011002", "UMLS:C4305026" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0019420" }, { "id": 19249, "label": "X-linked intellectual disability, Seemanova type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019057", "MEDGEN:930757", "Orphanet:85323", "SCTID:718897009", "UMLS:C4305088" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked." }, "child_count": 0, "reference_id": "MONDO:0019421" }, { "id": 19250, "label": "X-linked intellectual disability, Stevenson type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019058", "MEDGEN:930746", "Orphanet:85325", "SCTID:718909001", "UMLS:C4305077" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked syndromic intellectual disability characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome." }, "child_count": 0, "reference_id": "MONDO:0019422" }, { "id": 19251, "label": "X-linked intellectual disability, Stoll type", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019059", "MEDGEN:930744", "Orphanet:85326", "SCTID:718911005", "UMLS:C4305075" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked." }, "child_count": 0, "reference_id": "MONDO:0019423" }, { "id": 19252, "label": "X-linked intellectual disability-acromegaly-hyperactivity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019060", "MEDGEN:930076", "Orphanet:85327", "UMLS:C4304407" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region." }, "child_count": 0, "reference_id": "MONDO:0019424" }, { "id": 19253, "label": "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742, 20383 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:930605", "Orphanet:85330", "UMLS:C4304936" ], "synonyms": [ "X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterized by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive." }, "child_count": 0, "reference_id": "MONDO:0019426" }, { "id": 19255, "label": "fried syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016753", "MEDGEN:930803", "Orphanet:85335", "SCTID:718848000", "UMLS:C4305134" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies." }, "child_count": 0, "reference_id": "MONDO:0019428" }, { "id": 19257, "label": "X-linked intellectual disability-ataxia-apraxia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17096, 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019063", "MEDGEN:930808", "Orphanet:85338", "UMLS:C4305139" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked intellectual disability-ataxia-apraxia syndrome is characterized by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers." }, "child_count": 0, "reference_id": "MONDO:0019430" }, { "id": 21588, "label": "intellectual developmental disorder, X-linked, syndromic, Pilorge type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070422", "GARD:0025464", "MEDGEN:1803486", "OMIM:301076", "UMLS:C5676881" ], "synonyms": [ "MRXSP", "intellectual developmental disorder, X-linked, syndromic, Pilorge type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0024772" }, { "id": 21731, "label": "Paganini-Miozzo syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111843", "MEDGEN:1683361", "OMIM:301025", "UMLS:C5193010" ], "synonyms": [ "Paganini-Miozzo syndrome, X-linked recessive", "mental retardation, X-Linked, syndromic, Paganini-Miozzo type", "MRXSPM", "PAGANINI-MIOZZO SYNDROME" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0026724" }, { "id": 21738, "label": "intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025488", "MEDGEN:1716269", "OMIM:301039", "Orphanet:700325", "UMLS:C5393302" ], "synonyms": [ "intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, X-linked recessive", "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE", "MRXSHD", "Mental Retardation, X-Linked, With Marfanoid Habitus, 2" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0026733" }, { "id": 22113, "label": "intellectual disability, X-linked, syndromic, 35", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080241", "GARD:0025657", "MEDGEN:1392054", "OMIM:300998", "UMLS:C4478383" ], "synonyms": [ "intellectual developmental disorder, X-linked, syndromic, 35, X-linked recessive", "intellectual disability, X-linked, syndromic, 35", "MRXS35", "mental retardation, X-linked, syndromic, 35", "syndromic X-linked intellectual disability 35", "syndromic X-linked mental retardation 35" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030908" }, { "id": 22114, "label": "intellectual disability, X-linked, syndromic, Houge type", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080242", "GARD:0015282", "MEDGEN:1624740", "OMIM:301008", "UMLS:C4538788" ], "synonyms": [ "intellectual developmental disorder, X-linked, syndromic, Houge type", "intellectual disability, X-linked, syndromic, Houge type", "MRXSHG", "intellectual disability, X-linked, syndromic, HOUGE type", "mental retardation, X-linked, syndromic, HOUGE type", "mental retardation, X-linked, syndromic, Houge type", "syndromic X-linked intellectual disability Hough type", "syndromic X-linked mental retardation Hough type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030909" }, { "id": 23760, "label": "MED12-related intellectual disability syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026013" ], "synonyms": [ "MED12 X-linked syndromic intellectual disability", "MED12-related intellectual disability syndrome", "X-linked syndromic intellectual disability caused by mutation in MED12" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity." }, "child_count": 3, "reference_id": "MONDO:0100000" }, { "id": 23873, "label": "NAA10-related syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026055" ], "synonyms": [ "NAA10 X-linked syndromic intellectual disability", "NAA10-related syndrome", "X-linked syndromic intellectual disability caused by mutation in NAA10" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies." }, "child_count": 2, "reference_id": "MONDO:0100124" }, { "id": 23888, "label": "ATP6AP2-related disorder", "isLeaf": false, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026062" ], "synonyms": [ "ATP6AP2-related disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes." }, "child_count": 2, "reference_id": "MONDO:0100146" }, { "id": 23936, "label": "X-linked intellectual disability with hypopituitarism", "isLeaf": false, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026078" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease." }, "child_count": 1, "reference_id": "MONDO:0100195" }, { "id": 25058, "label": "SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked syndromic intellectual disability caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0800474" }, { "id": 25278, "label": "intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1794140", "OMIM:301066", "UMLS:C5561930" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859080" }, { "id": 25926, "label": "intellectual developmental disorder, X-linked, syndromic 37", "isLeaf": true, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1854940", "OMIM:301118", "UMLS:C5935567" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0958322" }, { "id": 29351, "label": "CASK-related intellectual disability", "isLeaf": false, "isRoot": false, "parents": [ 19742 ], "type_id": 0, "properties": { "synonyms": [ "CASK-related disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndromic disorder in which the cause of the disease is a variation in the CASK gene. It is associated with a wide phenotypic spectrum ranging from mild-to-severe intellectual disability with or without nystagmus to moderate-to-profound intellectual disability and progressive microcephaly with pontine and cerebellar hypoplasia, often associated with seizures." }, "child_count": 3, "reference_id": "MONDO:1060192" } ], "roots": [ { "id": 2961, "label": "syndromic intellectual disability" }, { "id": 24021, "label": "X-linked intellectual disability" } ] }