{ "id": 19138, "label": "ectodermal dysplasia syndrome", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019287", "properties": { "xrefs": [ "DOID:2121", "GARD:0006317", "ICD9:757.31", "MEDGEN:8544", "MESH:D004476", "MedDRA:10010452", "NCIT:C84683", "OMIMPS:305100", "Orphanet:79373", "SCTID:8654005", "UMLS:C0013575", "icd11.foundation:1156567558" ], "synonyms": [ "ectodermal dysplasia", "ectodermal dysplasia (select examples)" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." }, "isLeaf": false, "isRoot": false, "child_count": 120, "parents": [ { "id": 4370, "label": "syndromic disease", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:225", "MEDGEN:11688", "MESH:D013577", "NCIT:C28193", "OGMS:0000086", "UMLS:C0039082" ], "synonyms": [ "cluster, symptom", "clusters, symptom", "symptom cluster", "symptom clusters", "syndrome", "syndrome associated with disease or disorder", "syndromes", "syndromic disease", "syndromic disease or disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." }, "child_count": 1182, "reference_id": "MONDO:0002254" }, { "id": 20277, "label": "hereditary epidermal appendage anomaly", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020265", "MEDGEN:1843118", "Orphanet:183447", "UMLS:C5680583" ], "synonyms": [ "genetic epidermal appendage anomaly" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome." }, "child_count": 3, "reference_id": "MONDO:0021026" }, { "id": 23867, "label": "hereditary skin disorder", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6820 ], "type_id": 0, "properties": { "xrefs": [ "MESH:D012873", "SCTID:239001006" ], "synonyms": [ "disease, genetic skin", "diseases, genetic skin", "genetic skin disease", "genetic skin diseases", "genodermatosis", "skin disease, genetic" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An instance of skin disease that is caused by a modification of the individual's genome." }, "child_count": 228, "reference_id": "MONDO:0100118" } ], "children": [ { "id": 8487, "label": "ADULT syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 18362, 18956, 19138, 29233 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050601", "GARD:0000384", "MEDGEN:400232", "MESH:C538052", "OMIM:103285", "Orphanet:978", "SCTID:720464003", "UMLS:C1863204", "icd11.foundation:1445741645" ], "synonyms": [ "ADULT syndrome", "acro-dermato-ungual-lacrimal-tooth syndrome", "acrodermatounguallacrimaltooth syndrome", "pigment anomaly-ectrodactyly-hypodontia syndrome", "acro dermato ungual lacrimal tooth syndrome", "acro-dermato-ungual-lacrimal-Tooth syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia." }, "child_count": 0, "reference_id": "MONDO:0007072" }, { "id": 8496, "label": "autosomal dominant palmoplantar keratoderma and congenital alopecia", "isLeaf": true, "isRoot": false, "parents": [ 17917, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111244", "GARD:0000604", "MEDGEN:930338", "OMIM:104100", "Orphanet:1010", "SCTID:719518004", "UMLS:C4304669", "icd11.foundation:1745113656" ], "synonyms": [ "PPK-CA, Stevanovic type", "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia", "palmoplantar keratoderma and congenital alopecia type 1", "palmoplantar keratoderma and congenital alopecia, Stevanovic type", "palmoplantar keratoderma with congenital alopecia", "PPKCA1", "Ppkca, Stevanovic type", "alopecia congenita with hyperkeratosis of the palms and soles", "keratoderma-hypotrichosis-leukonychia totalis syndrome", "palmoplantar keratoderma and congenital alopecia 1" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." }, "child_count": 0, "reference_id": "MONDO:0007083" }, { "id": 8508, "label": "ameloonychohypohidrotic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000647", "MEDGEN:400184", "MESH:C538245", "OMIM:104570", "Orphanet:1028", "SCTID:715404000", "UMLS:C1863006" ], "synonyms": [ "ameloonychohypohidrotic syndrome", "amelo-onycho-hypohidrotic syndrome", "hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0007095" }, { "id": 8536, "label": "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome", "isLeaf": false, "isRoot": false, "parents": [ 18362, 18956, 19138, 29233 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090119", "GARD:0006571", "MEDGEN:98032", "MESH:C535847", "NORD:738", "OMIM:106260", "Orphanet:1071", "SCTID:55821006", "UMLS:C0406709" ], "synonyms": [ "AEC Syndrome", "AEC syndrome", "Hay-Wells syndrome", "Ankyloblepharon ectodermal defects cleft lip/palate", "Rapp-Hodgkins syndrome", "Seres-Santamaria Arimany Muniz syndrome", "ankyloblepharon-ectodermal defects-cleft LIP/palate", "cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." }, "child_count": 4, "reference_id": "MONDO:0007124" }, { "id": 8543, "label": "anonychia with flexural pigmentation", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016682", "MEDGEN:400144", "MESH:C566278", "OMIM:106750", "Orphanet:69125", "UMLS:C1862844" ], "synonyms": [ "anonychia with flexural pigmentation" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Anonychia with flexural pigmentation is characterized by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007131" }, { "id": 8612, "label": "Böök syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000932", "MEDGEN:99140", "MESH:C562993", "OMIM:112300", "Orphanet:1262", "SCTID:722296002", "UMLS:C0457014" ], "synonyms": [ "Böök syndrome", "book syndrome", "PHC syndrome", "premolar aplasia, hyperhidrosis, and canities prematura" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." }, "child_count": 0, "reference_id": "MONDO:0007207" }, { "id": 8734, "label": "blepharocheilodontic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16089, 19138, 19756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080344", "GARD:0002071", "MEDGEN:349302", "MESH:C536188", "OMIMPS:119580", "Orphanet:1997", "SCTID:717911008", "UMLS:C1861536", "icd11.foundation:755252042" ], "synonyms": [ "BCD syndrome", "Elsching syndrome", "blepharo-cheilo-odontic syndrome", "blepharocheilodontic syndrome", "clefting-ectropion-conical teeth syndrome", "ectropion inferior-cleft lip and or palate syndrome", "ectropion inferior-cleft lip and/or palate syndrome", "lagophthalmia-cleft lip and palate syndrome", "BCDS", "BCDS1", "Elschnig syndrome", "blepharo-cheilo-dontic syndrome", "blepharocheilodontic syndrome 1", "clefting, ectropion, and conical teeth", "ectropion inferior cleft lip and or palate", "ectropion, inferior, with cleft lip and/or palate", "lagophthalmia with bilateral cleft lip and palate" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." }, "child_count": 12, "reference_id": "MONDO:0007339" }, { "id": 8776, "label": "Stern-Lubinsky-Durrie syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001531", "MEDGEN:342260", "MESH:C537488", "OMIM:122440", "Orphanet:3194", "SCTID:723584003", "UMLS:C1852542", "icd11.foundation:1754695879" ], "synonyms": [ "corneo-dermato-osseous syndrome", "CORNEODERMATOOSSEOUS syndrome", "Cdo syndrome", "Stern Lubinsky Durrie syndrome", "corneal dystrophy epithelial and short stature", "corneal dystrophy, epithelial, with skin and skeletal changes" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Stern-Lubinsky-Durrie syndrome is characterized by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait." }, "child_count": 0, "reference_id": "MONDO:0007383" }, { "id": 8835, "label": "dermatopathia pigmentosa reticularis", "isLeaf": true, "isRoot": false, "parents": [ 17917, 19138, 19140 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111342", "GARD:0008550", "MEDGEN:98037", "MESH:C535374", "OMIM:125595", "Orphanet:86920", "SCTID:239088003", "UMLS:C0406778" ], "synonyms": [ "dermatopathia pigmentosa reticularis", "DPR" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0007445" }, { "id": 8839, "label": "dermo-odonto dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001816", "MEDGEN:377602", "MESH:C565103", "OMIM:125640", "Orphanet:1660", "SCTID:721091003", "UMLS:C1852144" ], "synonyms": [ "dermo-odonto dysplasia", "DERMOODONTODYSPLASIA", "dermo odontodysplasia", "dermo-odonto-dysplasia", "dermoodonto dysplasia", "ectodermal dysplasia, hair-nail-Tooth type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterized by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely." }, "child_count": 0, "reference_id": "MONDO:0007449" }, { "id": 8891, "label": "Rapp-Hodgkin syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 6518, 16697, 19138, 29233 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060330", "GARD:0005690", "MEDGEN:315656", "MESH:C535289", "OMIM:129400", "Orphanet:3022", "SCTID:7731005", "UMLS:C1785148", "icd11.foundation:1455333054" ], "synonyms": [ "Rapp-Hodgkin syndrome", "OFC8, included", "RHS", "Rapp-Hodgkin ectodermal dysplasia syndrome", "cleft lip with or without cleft palate, nonsyndromic, 8", "ectodermal dysplasia, anhidrotic, with cleft Lip/palate", "ectodermal dysplasia, anhidrotic, with cleft lip-palate", "orofacial cleft 8" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate." }, "child_count": 0, "reference_id": "MONDO:0007508" }, { "id": 8893, "label": "Clouston syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17917, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14693", "GARD:0002056", "MEDGEN:56416", "OMIM:129500", "Orphanet:189", "SCTID:54209007", "UMLS:C0162361" ], "synonyms": [ "Clouston syndrome", "hidrotic ectodermal dysplasia", "Clouston hidrotic ectodermal dysplasia", "ED2", "Patel Bixler syndrome", "alopecia, dysplastic nails, palmar and plantar hyperkeratosis", "autosomal dominant hidrotic ectodermal dysplasia", "ectodermal dysplasia 2, Clouston type", "ectodermal dysplasia, hidrotic", "ectodermal dysplasia, hidrotic, 2", "ectodermal dysplasia, hidrotic, 2, formerly", "ectodermal dysplasia, hidrotic, autosomal dominant", "hidrotic ectodermal dysplasia, autosomal dominant", "palmoplantar hyperkeratosis and alopecia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis." }, "child_count": 0, "reference_id": "MONDO:0007510" }, { "id": 8894, "label": "ectodermal dysplasia, trichoodontoonychial type", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002055", "MEDGEN:338798", "MESH:C565068", "OMIM:129510", "Orphanet:1818", "SCTID:734018003", "UMLS:C1851858" ], "synonyms": [ "ectodermal dysplasia, trichoodontoonychial type", "ectodermal dysplasia trichoodontoonychial type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996." }, "child_count": 0, "reference_id": "MONDO:0007511" }, { "id": 8978, "label": "gingival fibromatosis-hypertrichosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19135, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002324", "MEDGEN:342675", "MESH:C565016", "OMIM:135400", "Orphanet:2026", "SCTID:716008002", "UMLS:C1851120" ], "synonyms": [ "CGHT", "congenital generalised hypertrichosis terminalis", "congenital generalized hypertrichosis terminalis", "hirsutism-congenital gingival hyperplasia syndrome", "hypertrichosis with or without gingival hyperplasia", "hypertrichosis, congenital generalized, with gingival hyperplasia", "HTC3", "chromosome 17Q24.2-q24.3 Duplication syndrome", "chromosome 17Q24.2-q24.3 deletion syndrome", "extreme hirsutism with gingival fibromatosis", "fibromatosis, gingival, with hypertrichosis", "gingival fibromatosis with hypertrichosis", "hereditary gingival fibromatosis with hypertrichosis", "hypertrichosis terminalis, generalized, with gingival hyperplasia", "hypertrichosis terminalis, generalized, with or without gingival hyperplasia", "hypertrichosis, congenital generalized, with or without gingival hyperplasia", "microdeletion 17Q24.2-q24.3 syndrome", "microduplication 17Q24.2-q24.3 syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback." }, "child_count": 0, "reference_id": "MONDO:0007610" }, { "id": 9048, "label": "hypertrichosis cubiti-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19135, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000143", "MEDGEN:870835", "MESH:C535618", "MedDRA:10068636", "OMIM:139600", "Orphanet:2220", "UMLS:C4025295" ], "synonyms": [ "MacDermot-Patton-Williams syndrome", "hairy elbows", "hairy elbows syndrome", "hypertrichosis cubiti" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated." }, "child_count": 0, "reference_id": "MONDO:0007693" }, { "id": 9173, "label": "Johnson neuroectodermal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000378", "MEDGEN:167092", "MESH:C535882", "OMIM:147770", "Orphanet:2316", "SCTID:721584005", "UMLS:C0796002", "icd11.foundation:1480597785" ], "synonyms": [ "Johnson neuroectodermal syndrome", "Johnson-McMillin syndrome", "alopecia-anosmia-conductive hearing loss-hypogonadism syndrome", "alopecia-anosmia-deafness-hypogonadism syndrome", "Aadh syndrome", "alopecia anosmia deafness hypogonadism syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism." }, "child_count": 0, "reference_id": "MONDO:0007837" }, { "id": 9279, "label": "Marshall syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 16089, 17206, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111510", "GARD:0006984", "ICD9:759.89", "MEDGEN:82694", "MESH:C536025", "NCIT:C128115", "NORD:1407", "OMIM:154780", "Orphanet:560", "SCTID:33410002", "UMLS:C0265235", "icd11.foundation:1401051186" ], "synonyms": [ "Marshall syndrome", "MRSHS", "deafness, myopia, cataract, saddle nose-Marshall type" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis." }, "child_count": 0, "reference_id": "MONDO:0007949" }, { "id": 9382, "label": "Naegeli-Franceschetti-Jadassohn syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17917, 19138, 19140 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111528", "GARD:0003912", "MEDGEN:91010", "MESH:C538331", "OMIM:161000", "Orphanet:69087", "SCTID:239084001", "UMLS:C0343111", "icd11.foundation:352035640" ], "synonyms": [ "NFJ syndrome", "Naegeli syndrome", "Naegeli-Franceschetti-Jadassohn syndrome", "NAEGELI syndrome", "NAEGELI-Franceschetti-Jadassohn syndrome", "NFJS", "Nfj syndrome", "reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth." }, "child_count": 0, "reference_id": "MONDO:0008059" }, { "id": 9428, "label": "oculodentodigital dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7019, 16088, 18360, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060291", "GARD:0007239", "ICD9:759.89", "MEDGEN:167236", "MESH:C563160", "MedDRA:10063691", "NORD:1519", "OMIM:164200", "Orphanet:2710", "SCTID:38215007", "UMLS:C0812437" ], "synonyms": [ "Meyer-Schwickerath syndrome", "ODDD syndrome", "Oculo-Dento-Digital Dysplasia", "oculo-dento-digital dysplasia", "oculodentodigital dysplasia", "oculodentoosseous dysplasia", "odd syndrome", "ODDD", "oculo-dento-digital syndrome", "oculodentodigital syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." }, "child_count": 4, "reference_id": "MONDO:0008111" }, { "id": 9589, "label": "Cronkhite-Canada syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6151, 16103, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6225", "GARD:0004427", "MEDGEN:129128", "MESH:D044483", "MedDRA:10062907", "NANDO:1200901", "NCIT:C7035", "NORD:1017", "OMIM:175500", "Orphanet:2930", "SCTID:76304001", "UMLS:C0282207", "icd11.foundation:79007466" ], "synonyms": [ "Cronkhite-Canada syndrome", "gastric Cronkhite Canada polyposis", "gastrointestinal polyposis-ectodermal changes syndrome", "gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome", "Cronkhite-Canada disease", "polyposis skin pigmentation alopecia fingernail changes", "polyposis, skin pigmentation, alopecia, and fingernail changes" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation." }, "child_count": 0, "reference_id": "MONDO:0008283" }, { "id": 9703, "label": "scalp-ear-nipple syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 19138, 19143 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111550", "GARD:0000159", "MEDGEN:357183", "MESH:C536623", "OMIM:181270", "Orphanet:2036", "SCTID:721888002", "UMLS:C1867020", "icd11.foundation:88843032" ], "synonyms": [ "Finlay-Marks syndrome", "scalp-ear-nipple syndrome", "SENS", "Sen syndrome", "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples", "scalp ear nipple syndrome", "scalp-EAR-nipple syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0008404" }, { "id": 9868, "label": "tooth and nail syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6678", "GARD:0005587", "MEDGEN:140809", "MESH:C536736", "NCIT:C40553", "NORD:1777", "OMIM:189500", "Orphanet:2228", "SCTID:400036004", "UMLS:C0406735" ], "synonyms": [ "HND", "Witkop syndrome", "hypodontia and nail dysplasia", "hypodontia with nail dysplasia", "hypodontia-nail dysgenesis syndrome", "hypodontia-nail dysplasia", "hypoplastic enamel-onycholysis-hypohidrosis syndrome", "tooth and nail syndrome", "TNS", "WITKOP syndrome", "dysplasia of nails with hypodontia", "ectodermal dysplasia 3, Tooth/nail type", "ectodermal dysplasia 3, Witkop type", "hypodontia - dysplasia of nails", "hypodontia-dysplasia of nails syndrome", "nail dysplasia with hypodontia", "tooth-and-nail syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia." }, "child_count": 0, "reference_id": "MONDO:0008582" }, { "id": 9878, "label": "tricho-dento-osseous syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18360, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111565", "GARD:0007799", "ICD9:759.89", "MEDGEN:78555", "MESH:C536549", "NORD:1786", "OMIM:190320", "Orphanet:3352", "SCTID:38993008", "UMLS:C0265333", "icd11.foundation:131993435" ], "synonyms": [ "TDO", "TDO syndrome", "TRICHODENTOOSSEOUS syndrome", "Tricho Dento Osseous Syndrome", "TDO syndrome 1", "Tricho-dento-osseous syndrome 1", "enamel hypoplasia and hypocalcification with associated strikingly curly hair", "kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull." }, "child_count": 0, "reference_id": "MONDO:0008592" }, { "id": 9906, "label": "tricho-retino-dento-digital syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000938", "MEDGEN:348658", "MESH:C536576", "OMIM:191482", "Orphanet:1264", "SCTID:719910004", "UMLS:C1860605", "icd11.foundation:200680230" ], "synonyms": [ "Bork syndrome", "uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome", "Bork Stender Schmidt syndrome", "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients." }, "child_count": 0, "reference_id": "MONDO:0008622" }, { "id": 9950, "label": "acrofacial dysostosis, Weyers type", "isLeaf": true, "isRoot": false, "parents": [ 16089, 18363, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111571", "GARD:0000497", "ICD9:520.8", "MEDGEN:141594", "MESH:C536695", "OMIM:193530", "Orphanet:952", "SCTID:277807007", "UMLS:C0457013", "icd11.foundation:547338814" ], "synonyms": [ "Weyers acrodental dysostosis", "Weyers acrofacial dysostosis", "curry-Hall syndrome", "acrodental dysostosis of Weyers", "acrofacial dysostosis of Weyers", "curry Hall syndrome", "wad" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner." }, "child_count": 0, "reference_id": "MONDO:0008673" }, { "id": 9979, "label": "Ackerman syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000469", "MEDGEN:395426", "MESH:C538170", "OMIM:200970", "Orphanet:2561", "SCTID:722280000", "UMLS:C1860167", "icd11.foundation:1946127088" ], "synonyms": [ "Ackerman fused molar rooth syndrome", "Ackerman syndrome", "pyramidal molar-glaucoma-upper abnormal lip syndrome", "glaucoma, juvenile, with unusual upper lip and dental roots", "juvenile glaucoma with unusual upper lip and dental roots", "molar roots, pyramidal, with juvenile glaucoma and unusual upper lip", "pyramidal molars, glaucoma, abnormal upper lip" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers." }, "child_count": 0, "reference_id": "MONDO:0008706" }, { "id": 10027, "label": "alopecia - contractures - dwarfism - intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000605", "MEDGEN:167081", "MESH:C537051", "OMIM:203550", "Orphanet:1005", "UMLS:C0795895" ], "synonyms": [ "ACD-intellectual disability syndrome", "ACD intellectual disability syndrome", "ACD mental retardation syndrome", "alopecia-contractures-dwarfism intellectual disability syndrome", "alopecia-contractures-dwarfism mental retardation syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome." }, "child_count": 0, "reference_id": "MONDO:0008754" }, { "id": 10080, "label": "AREDYLD syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008509", "ICD9:753.3", "MEDGEN:87435", "MESH:C537427", "OMIM:207780", "Orphanet:1133", "SCTID:237610008", "UMLS:C0342280", "icd11.foundation:2007371732" ], "synonyms": [ "acrorenal defect-ectodermal dysplasia-diabetes syndrome", "AREDYLD", "acral renal ectodermal dysplasia lipoatrophic diabetes", "acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0008812" }, { "id": 10118, "label": "Barber-Say syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3562, 16089, 19138, 19755 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060549", "GARD:0000819", "MEDGEN:230818", "MESH:C537908", "NORD:875", "OMIM:209885", "Orphanet:1231", "SCTID:408537003", "UMLS:C1319466", "icd11.foundation:37248895" ], "synonyms": [ "Barber-Say syndrome", "Brown Séquard Syndrome", "hypertrichosis-atrophic skin-ectropion-macrostomia syndrome", "BARBER-SAY syndrome", "BBRSAY", "Barber Say syndrome", "Bss", "hypertrichosis atrophic skin ectropion macrostomia", "hypertrichosis, atrophic skin, ectropion, and macrostomia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." }, "child_count": 0, "reference_id": "MONDO:0008853" }, { "id": 10149, "label": "oculoosteocutaneous syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000992", "MEDGEN:347867", "MESH:C565893", "OMIM:211370", "Orphanet:2713", "SCTID:722061006", "UMLS:C1859385" ], "synonyms": [ "BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM", "anodontia-hypotrichosis syndrome", "brachymetapody anodontia hypotrichosis albinoidism", "oculoosteocutaneous syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0008884" }, { "id": 10159, "label": "cataract-hypertrichosis-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19135, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001052", "MEDGEN:167117", "MESH:C537959", "OMIM:211770", "Orphanet:1375", "SCTID:722379001", "UMLS:C0796282" ], "synonyms": [ "CAHMR syndrome", "cataract, hypertrichosis, intellectual disability syndrome", "cataract, hypertrichosis, mental retardation syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0008894" }, { "id": 10186, "label": "autosomal recessive palmoplantar keratoderma and congenital alopecia", "isLeaf": true, "isRoot": false, "parents": [ 7611, 17917, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111245", "GARD:0001139", "MEDGEN:347851", "MESH:C535336", "OMIM:212360", "Orphanet:1366", "UMLS:C1859316", "icd11.foundation:1733151457" ], "synonyms": [ "PPK-CA, Wallis type", "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia", "cataract-alopecia-sclerodactyly syndrome", "palmoplantar keratoderma and congenital alopecia type 2", "palmoplantar keratoderma and congenital alopecia, Wallis type", "PPKCA2", "Ppkca, Wallis type", "cass", "cataract, alopecia, sclerodactyly", "cataract, alopecia, sclerodactyly syndrome", "palmoplantar keratoderma and congenital alopecia 2" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." }, "child_count": 0, "reference_id": "MONDO:0008923" }, { "id": 10196, "label": "cerebellar ataxia-ectodermal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001189", "MEDGEN:347850", "MESH:C535350", "OMIM:212835", "Orphanet:1174", "SCTID:715371006", "UMLS:C1859306" ], "synonyms": [ "cerebellar ataxia - ectodermal dysplasia", "cerebellar ataxia and ectodermal dysplasia", "cerebellar ataxia ectodermal dysplasia", "ectodermal dysplasia and cerebellar ataxia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." }, "child_count": 0, "reference_id": "MONDO:0008934" }, { "id": 10283, "label": "cranioectodermal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 12769, 16201, 16302, 16626, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050577", "GARD:0000359", "ICD9:756.9", "MEDGEN:1641011", "NCIT:C129305", "OMIMPS:218330", "Orphanet:1515", "SCTID:254093009", "UMLS:C4551571", "icd11.foundation:1588881145" ], "synonyms": [ "CED", "Sensenbrenner syndrome", "cranioectodermal dysplasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." }, "child_count": 35, "reference_id": "MONDO:0009032" }, { "id": 10332, "label": "conductive deafness-ptosis-skeletal anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000305", "MEDGEN:347428", "MESH:C535993", "OMIM:221320", "Orphanet:3236", "SCTID:763213001", "UMLS:C1857340" ], "synonyms": [ "Jackson-Barr syndrome", "Jackson Barr syndrome", "deafness conductive ptosis skeletal anomalies", "deafness, conductive, with ptosis and skeletal anomalies" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978." }, "child_count": 0, "reference_id": "MONDO:0009084" }, { "id": 10343, "label": "dermatoosteolysis, Kirghizian type", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001814", "MEDGEN:341742", "MESH:C535373", "OMIM:221810", "Orphanet:1657", "SCTID:721090002", "UMLS:C1857301", "icd11.foundation:2019080941" ], "synonyms": [ "dermatoosteolysis, Kirghizian type", "Dermatoosteolysis Kirghizian type", "Kirghizian Dermatoosteolysis", "autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Dermatoosteolysis, Kirghizian type, is characterized by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009095" }, { "id": 10369, "label": "Dubowitz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14796", "GARD:0006290", "ICD9:742.8", "MEDGEN:59797", "MESH:C535718", "MedDRA:10059589", "NCIT:C125591", "NORD:1064", "OMIM:223370", "Orphanet:235", "SCTID:2593002", "UMLS:C0175691", "icd11.foundation:758537040" ], "synonyms": [ "Dubowitz syndrome", "dwarfism-eczema-peculiar facies syndrome", "intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci", "intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behaviour problems, eczema, and unusual and distinctive faci", "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci", "intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behaviour problems, eczema, and unusual and distinctive faci" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." }, "child_count": 0, "reference_id": "MONDO:0009124" }, { "id": 10390, "label": "ectodermal dysplasia-sensorineural deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009723", "MEDGEN:346503", "MESH:C535757", "MESH:C565606", "OMIM:224800", "Orphanet:1883", "UMLS:C1857068" ], "synonyms": [ "ectodermal dysplasia-sensorineural hearing loss syndrome", "Mikaelian syndrome", "congenital ectodermal dysplasia with hearing loss", "ectodermal dysplasia and neurosensory deafness", "hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009146" }, { "id": 10393, "label": "ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016578", "MEDGEN:347363", "MESH:C565605", "OMIM:225040", "Orphanet:1812", "UMLS:C1857053" ], "synonyms": [ "ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998." }, "child_count": 0, "reference_id": "MONDO:0009149" }, { "id": 10394, "label": "hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6875, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002049", "MEDGEN:384046", "MESH:C565604", "OMIM:225050", "Orphanet:1882", "SCTID:239050000", "UMLS:C1857052" ], "synonyms": [ "HEDH syndrome", "another syndrome", "ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia", "ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia", "hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia", "hypohidrotic ectodermal dysplasia with hypothyroidism", "hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009150" }, { "id": 10395, "label": "cleft lip/palate-ectodermal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2863, 7611, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060773", "GARD:0000375", "MEDGEN:444067", "NCIT:C122656", "OMIM:225060", "Orphanet:320317", "Orphanet:3253", "SCTID:716248001", "UMLS:C2931488" ], "synonyms": [ "Zlotogora-Ogur syndrome", "cleft lip/palate-ectodermal dysplasia syndrome", "cleft lip/palate-syndactyly-pili torti syndrome", "syndactyly-ectodermal dysplasia-cleft/lip palate", "Bustos Simosa pinto Cisternas syndrome", "CLEPD", "CLPED1", "ED4", "Zlotogora syndrome", "autosomal recessive ectodermal dysplasia", "cleft lip with or without cleft palate, nonsyndromic, 7", "cleft lip-palate-ectodermal dysplasia syndrome", "cleft lip/palate-syndactyly-pili torti", "ectodermal dysplasia margarita island type", "ectodermal dysplasia type 4", "ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly", "ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly", "ectodermal dysplasia, margarita Island type", "ectodermal dysplasia, type 4", "orofacial cleft 7" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0009151" }, { "id": 10399, "label": "EEM syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 18362, 18956, 19138, 19765 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111649", "GARD:0002078", "MEDGEN:341679", "MESH:C536190", "OMIM:225280", "Orphanet:1897", "SCTID:720856002", "UMLS:C1857041" ], "synonyms": [ "EEM syndrome", "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome", "EEMS", "ectodermal dysplasia, ectrodactyly, and macular dystrophy", "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)." }, "child_count": 0, "reference_id": "MONDO:0009155" }, { "id": 10405, "label": "Ellis-van Creveld syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7611, 18735, 19138, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12714", "GARD:0001301", "ICD10CM:Q77.6", "ICD9:756.55", "MEDGEN:8584", "MESH:D004613", "MedDRA:10008724", "NCIT:C84684", "NORD:1083", "OMIM:225500", "Orphanet:289", "SCTID:62501005", "UMLS:C0013903" ], "synonyms": [ "Chondroectodermal dysplasia", "EVC", "Ellis Van Creveld Syndrome", "Ellis Van Creveld syndrome", "Ellis-VAN Creveld syndrome", "Ellis-van Creveld syndrome", "Mesoectodermal dysplasia", "mesodermic dysplasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects." }, "child_count": 4, "reference_id": "MONDO:0009162" }, { "id": 10428, "label": "amelocerebrohypohidrotic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111668", "GARD:0003128", "MEDGEN:98036", "MESH:C537213", "OMIM:226750", "Orphanet:1946", "SCTID:109478007", "UMLS:C0406740" ], "synonyms": [ "Kohlschutter-Tonz syndrome", "amelocerebrohypohidrotic syndrome", "epilepsy-dementia-amelogenesis imperfecta syndrome", "KOHLSCHUTTER-Tonz syndrome", "KTZS", "Kohlschutter Tonz syndrome", "Kohlschutter syndrome", "epilepsy and Yellow teeth", "epilepsy dementia amelogenesis imperfecta", "epilepsy, dementia, and amelogenesis imperfecta" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia." }, "child_count": 0, "reference_id": "MONDO:0009185" }, { "id": 10504, "label": "GAPO syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112249", "GARD:0000400", "MEDGEN:98034", "MESH:C535642", "OMIM:230740", "Orphanet:2067", "SCTID:721843003", "UMLS:C0406723", "icd11.foundation:909165198" ], "synonyms": [ "Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome", "gapo syndrome", "Growth retardation, alopecia, pseudoanodontia and optic atrophy", "Growth retardation, alopecia, pseudoanodontia, and optic atrophy" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations" }, "child_count": 0, "reference_id": "MONDO:0009263" }, { "id": 10673, "label": "ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000292", "MEDGEN:344577", "MESH:C537364", "OMIM:242510", "Orphanet:2269", "UMLS:C1855788" ], "synonyms": [ "Jagell-Holmgren-Hofer syndrome", "Jagell Holmgren Hofer syndrome", "ichthyosis alopecia eclabion ectropion intellectual disability", "ichthyosis alopecia eclabion ectropion mental retardation", "ichthyosis with alopecia, eclabium, ectropion, and intellectual disability", "ichthyosis with alopecia, eclabium, ectropion, and mental retardation" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987." }, "child_count": 0, "reference_id": "MONDO:0009444" }, { "id": 10746, "label": "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002044", "MEDGEN:383698", "MESH:C565440", "OMIM:246500", "Orphanet:1816", "SCTID:239032007", "UMLS:C1855504" ], "synonyms": [ "Berlin syndrome", "LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis", "LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis", "ectodermal dysplasia, Berlin type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961." }, "child_count": 0, "reference_id": "MONDO:0009522" }, { "id": 10756, "label": "Dahlberg-Borer-Newcomer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 19138, 19154 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000237", "MEDGEN:383693", "MESH:C535769", "OMIM:247410", "Orphanet:1563", "SCTID:721083007", "UMLS:C1855477", "icd11.foundation:1407652122" ], "synonyms": [ "Dahlberg syndrome", "lymphedema-hypoparathyroidism syndrome", "Dahlberg Borer Newcomer syndrome", "hypoparathyroidism lymphedema syndrome", "hypoparathyroidism-lymphedema syndrome", "lymphedema hypoparathyroidism syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." }, "child_count": 0, "reference_id": "MONDO:0009533" }, { "id": 10815, "label": "cartilage-hair hypoplasia", "isLeaf": false, "isRoot": false, "parents": [ 6893, 7611, 16471, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14773", "GARD:0006996", "MEDGEN:67398", "MESH:C535916", "MedDRA:10069596", "NCIT:C61245", "NORD:1414", "OMIM:250250", "Orphanet:175", "SCTID:7720002", "UMLS:C0220748", "icd11.foundation:469051294" ], "synonyms": [ "McKusick Type Metaphyseal Chondrodysplasia", "autosomal recessive metaphyseal chondrodysplasia", "cartilage hair hypoplasia", "cartilage-hair hypoplasia", "metaphyseal chondrodysplasia, McKusick type", "CHH", "cartilage hair hypoplasia like syndrome", "metaphyseal chondrodysplasia McKusick type", "metaphyseal chondrodysplasia, Mckusick type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth." }, "child_count": 4, "reference_id": "MONDO:0009595" }, { "id": 10981, "label": "oculotrichodysplasia", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016607", "MEDGEN:340517", "MESH:C564934", "OMIM:257960", "Orphanet:2718", "SCTID:722062004", "UMLS:C1850332", "icd11.foundation:1202969811" ], "synonyms": [ "Cecato de Lima-Pinheiro syndrome", "oculotrichodysplasia", "OTD" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009771" }, { "id": 11076, "label": "pilodental dysplasia-refractive errors syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000277", "MEDGEN:376661", "MESH:C535763", "OMIM:262020", "Orphanet:2892", "UMLS:C1849805" ], "synonyms": [ "Euhidrotic ectodermal dysplasia", "Kopysc-Barczyk-Krol syndrome", "PILODENTAL dysplasia with refractive errors", "Trichodental dysplasia with hyperopia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985." }, "child_count": 0, "reference_id": "MONDO:0009873" }, { "id": 11104, "label": "Bartsocas-Papas syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 17729, 19138, 23110 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004436", "MEDGEN:337894", "MESH:C564874", "NCIT:C168990", "OMIM:263650", "Orphanet:1234", "SCTID:722376008", "UMLS:C1849718" ], "synonyms": [ "Bartsocas Papas syndrome", "Bartsocas-Papas syndrome", "autosomal recessive popliteal pterygium syndrome", "lethal popliteal pterygium syndrome", "popliteal pterygium syndrome, Bartsocas-Papas type 1", "popliteal pterygium syndrome, lethal type", "BPS", "multiple pterygium syndrome, Aslan type", "popliteal pterygium syndrome lethal type", "popliteal pterygium syndrome, Bartsocas-Papas type", "pterygium popliteal lethal type", "pterygium, popliteal, lethal type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported." }, "child_count": 0, "reference_id": "MONDO:0009901" }, { "id": 11196, "label": "ectodermal dysplasia-blindness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002045", "MEDGEN:340297", "MESH:C535865", "OMIM:268320", "Orphanet:1806", "UMLS:C1849332" ], "synonyms": [ "RODRIGUES blindness", "microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities", "microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0010001" }, { "id": 11204, "label": "Schinzel-Giedion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16088, 19138, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070509", "GARD:0000117", "ICD9:759.89", "MEDGEN:120517", "MESH:C536632", "MedDRA:10063540", "NCIT:C129308", "NORD:1694", "OMIM:269150", "Orphanet:798", "SCTID:18899000", "UMLS:C0265227", "icd11.foundation:1542318431" ], "synonyms": [ "SGS", "Schinzel Giedion Syndrome", "Schinzel-Giedion midface-retraction syndrome", "Schinzel-Giedion syndrome", "Schinzel Giedion midface-retraction syndrome", "Schinzel Giedion syndrome", "Schinzel-Giedion midface retraction syndrome", "Sgs" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies." }, "child_count": 0, "reference_id": "MONDO:0010010" }, { "id": 11288, "label": "Teebi-Shaltout syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6893, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005125", "MEDGEN:376472", "MESH:C536950", "OMIM:272950", "Orphanet:3291", "UMLS:C1848912" ], "synonyms": [ "Teebi-Shaltout syndrome", "TBSH", "Teebi Shaltout syndrome", "craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features." }, "child_count": 0, "reference_id": "MONDO:0010101" }, { "id": 11289, "label": "taurodontia-absent teeth-sparse hair syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005118", "MEDGEN:338570", "MESH:C536945", "OMIM:272980", "Orphanet:2731", "UMLS:C1848909" ], "synonyms": [ "taurodontia, absent teeth, and sparse hair", "taurodontia, absent teeth, sparse hair syndrome", "teeth, congenital absence of, with taurodontia and sparse hair" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families." }, "child_count": 0, "reference_id": "MONDO:0010102" }, { "id": 11297, "label": "odontotrichomelic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002381", "MEDGEN:443944", "MESH:C535637", "OMIM:273400", "Orphanet:2723", "SCTID:239028001", "UMLS:C2930960", "icd11.foundation:1999951139" ], "synonyms": [ "Freire-Maia odontotrichomelic syndrome", "Freire-Maia syndrome", "odontotrichomelic hypohidrotic dysplasia", "odontotrichomelic syndrome", "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Odontotrichomelic syndrome is characterized by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0010111" }, { "id": 11334, "label": "trichomegaly-retina pigmentary degeneration-dwarfism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111271", "GARD:0005266", "MEDGEN:338532", "MESH:C536554", "OMIM:275400", "Orphanet:3363", "SCTID:719944006", "UMLS:C1848745" ], "synonyms": [ "Oliver-McFarlane syndrome", "long eyelashes-intellectual disability syndrome", "OMCS", "Oliver McFarlane syndrome", "eyelashes, long with intellectual disability", "eyelashes, long, with intellectual disability", "eyelashes, long, with mental retardation", "trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina", "trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina", "trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0010152" }, { "id": 11335, "label": "trichoodontoonychial dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005267", "MEDGEN:481087", "MESH:C564760", "OMIM:275450", "Orphanet:3355", "SCTID:766813000", "UMLS:C3279457" ], "synonyms": [ "trichoodontoonychial dysplasia with bone deficiency in frontoparietal region", "trichoodontoonychial dysplasia with bone deficiency" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983." }, "child_count": 0, "reference_id": "MONDO:0010153" }, { "id": 11399, "label": "CHIME syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16198, 16607, 17977, 19138, 21415, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112152", "GARD:0000310", "MEDGEN:341214", "MESH:C536729", "OMIM:280000", "Orphanet:3474", "SCTID:720639008", "UMLS:C1848392" ], "synonyms": [ "CHIME syndrome", "PIGL-CDG", "Zunich-Kaye syndrome", "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome", "congenital disorder of glycosylation due to PIGL deficiency", "neuroectodermal dysplasia, CHIME type", "neuroectodermal syndrome, Zunich type", "CHIME", "Zunich neuroectodermal syndrome", "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome", "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome", "glycosylphosphatidylinositol biosynthesis defect 5" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." }, "child_count": 0, "reference_id": "MONDO:0010221" }, { "id": 11467, "label": "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17540, 19138, 19154, 23904 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016681", "MEDGEN:929406", "MESH:C564538", "OMIM:300301", "Orphanet:69088", "SCTID:720986005", "UMLS:C4303737" ], "synonyms": [ "OL-EDA-ID", "ol-EDA-ID", "OLEDAID", "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia." }, "child_count": 0, "reference_id": "MONDO:0010295" }, { "id": 11473, "label": "Ito hypomelanosis", "isLeaf": true, "isRoot": false, "parents": [ 7019, 19138, 19141 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3156", "GARD:0002992", "MEDGEN:5920", "NORD:1274", "OMIM:300337", "Orphanet:435", "UMLS:C0022283" ], "synonyms": [ "Hypomelanosis of Ito", "Incontinentia pigmenti type 1", "Ito hypomelanosis", "hi syndrome", "hypomelanosis of Ito", "pigmentary mosaicism, Ito type", "HMI", "IPA", "Incontinentia pigmenti achromians", "Incontinentia pigmenti type 1 (formerly)", "Incontinentia pigmenti, type I", "Incontinentia pigmenti, type I, formerly", "Ito" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines." }, "child_count": 0, "reference_id": "MONDO:0010302" }, { "id": 11686, "label": "contractures-ectodermal dysplasia-cleft lip/palate syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001515", "MEDGEN:375546", "OMIM:301815", "Orphanet:1484", "SCTID:720746006", "UMLS:C1844935" ], "synonyms": [ "Ladda-Zonana-Ramer syndrome", "Ladda Zonana Ramer syndrome", "arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay", "congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment", "contractures ectodermal dysplasia cleft lip palate" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia." }, "child_count": 0, "reference_id": "MONDO:0010531" }, { "id": 11777, "label": "incontinentia pigmenti", "isLeaf": true, "isRoot": false, "parents": [ 19138, 19767 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12305", "GARD:0006778", "ICD10CM:Q82.3", "MEDGEN:7049", "MESH:D007184", "NANDO:2200974", "NCIT:C84787", "NORD:1300", "OMIM:308300", "Orphanet:464", "SCTID:367520004", "UMLS:C0021171", "Wikipedia:Incongenita_pigmenti", "icd11.foundation:1542530268" ], "synonyms": [ "Bloch-Siemens syndrome", "Bloch-Sulzberger syndrome", "Incontinentia pigmenti syndrome", "incontinentia pigmenti", "incontinentia pigmenti, X-linked dominant", "IP", "IP2 (formerly)", "Incontinentia pigmenti type 2 (formerly)", "Incontinentia pigmenti, familial Male-lethal type", "Incontinentia pigmenti, type II", "Incontinentia pigmenti, type II, formerly" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." }, "child_count": 0, "reference_id": "MONDO:0010631" }, { "id": 11989, "label": "Toriello-Lacassie-Droste syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111705", "GARD:0010366", "MEDGEN:333068", "MESH:C563969", "OMIM:600268", "Orphanet:3339", "SCTID:723554006", "UMLS:C1838329", "icd11.foundation:1983176633" ], "synonyms": [ "aplasia cutis congenita-epibulbar dermoids syndrome", "oculoectodermal syndrome", "oculoectodermal syndrome, somatic", "Toriello Lacassie Droste syndrome", "aplasia cutis congenita with epibulbar dermoids", "oculo-ectodermal syndrome", "oes" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital." }, "child_count": 0, "reference_id": "MONDO:0010854" }, { "id": 12160, "label": "odontomicronychial dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004053", "MEDGEN:371336", "MESH:C537741", "OMIM:601319", "Orphanet:1811", "UMLS:C1832473" ], "synonyms": [ "odontomicronychial dysplasia", "ectodermal dysplasia, nail/Tooth type", "odonto-micronychial dysplasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails." }, "child_count": 0, "reference_id": "MONDO:0011034" }, { "id": 12167, "label": "ectodermal dysplasia with natal teeth, Turnpenny type", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010526", "MEDGEN:371331", "MESH:C563347", "OMIM:601345", "Orphanet:69083", "SCTID:715576000", "UMLS:C1832444", "icd11.foundation:612149960" ], "synonyms": [ "ectodermal dysplasia with natal teeth, Turnpenny type", "ectodermal dysplasia with natal teeth Turnpenny type", "ectodermal dysplasia, hair/Tooth type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ectodermal dysplasia with natal teeth, Turnpenny type is characterized by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0011041" }, { "id": 12189, "label": "hidrotic ectodermal dysplasia, Christianson-Fourie type", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002682", "MEDGEN:371322", "MESH:C536180", "OMIM:601375", "Orphanet:1808", "UMLS:C1832411", "icd11.foundation:661397711" ], "synonyms": [ "Christianson-Fourie syndrome", "ectodermal dysplasia, hidrotic, Christianson-Fourie type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia." }, "child_count": 0, "reference_id": "MONDO:0011063" }, { "id": 12209, "label": "trichodental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000265", "MEDGEN:96068", "MESH:C536551", "OMIM:601453", "Orphanet:3351", "SCTID:277810000", "UMLS:C0406724", "icd11.foundation:944650339" ], "synonyms": [ "kersey syndrome", "TRICHODENTAL dysplasia", "Tricho-dental dysplasia", "Tricho-dental syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Trichodental syndrome is characterized by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0011083" }, { "id": 12233, "label": "congenital hypotrichosis with juvenile macular dystrophy", "isLeaf": true, "isRoot": false, "parents": [ 5030, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110711", "GARD:0003066", "MEDGEN:316921", "MESH:C537698", "OMIM:601553", "Orphanet:1573", "UMLS:C1832162" ], "synonyms": [ "HJMD", "Hjmd", "hypotrichosis with cone-rod dystrophy", "hypotrichosis with juvenile macular dystrophy", "hypotrichosis with juvenile macular degeneration", "hypotrichosis, congenital, with juvenile macular dystrophy", "juvenile macular degeneration and hypotrichosis", "juvenile macular dystrophy and congenital hypotrichosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness." }, "child_count": 0, "reference_id": "MONDO:0011107" }, { "id": 12254, "label": "tricho-oculo-dermo-vertebral syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001553", "MEDGEN:355714", "MESH:C537441", "OMIM:601701", "Orphanet:3354", "UMLS:C1866427", "icd11.foundation:1206025469" ], "synonyms": [ "Alves-dos Santos-Castelo syndrome", "ectodermal dysplasia-cataracts-kyphoscoliosis syndrome", "Alves syndrome", "Todv syndrome", "Trichooculodermovertebral syndrome", "arthrogryposis and ectodermal dysplasia", "ectodermal dysplasia - cataracts - kyphoscoliosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0011131" }, { "id": 12293, "label": "odonto-tricho-ungual-digito-palmar syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016679", "MEDGEN:400891", "MESH:C566598", "OMIM:601957", "Orphanet:69082", "SCTID:722063009", "UMLS:C1865998", "icd11.foundation:386386782" ], "synonyms": [ "OTUDP syndrome", "odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type", "ODONTOTRICHOUNGUAL-digital-palmar syndrome", "Otudp syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Odonto-tricho-ungual-digito-palmar syndrome is characterized by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait." }, "child_count": 0, "reference_id": "MONDO:0011171" }, { "id": 12340, "label": "Fried's tooth and nail syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111661", "GARD:0016903", "MEDGEN:764338", "OMIM:602401", "Orphanet:99672", "SCTID:239020008", "UMLS:C3551424" ], "synonyms": [ "ECTD8", "ectodermal dysplasia 8, hair/tooth/nail type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0011219" }, { "id": 12444, "label": "limb-mammary syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010051", "MEDGEN:355051", "MESH:C535903", "OMIM:603543", "Orphanet:69085", "SCTID:721972001", "UMLS:C1863753", "icd11.foundation:1958986288" ], "synonyms": [ "LMS", "limb-mammary syndrome", "mammary hypoplasia, ectrodactyly, and other hand/foot anomalies" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias." }, "child_count": 0, "reference_id": "MONDO:0011334" }, { "id": 12574, "label": "epidermolysis bullosa simplex due to plakophilin deficiency", "isLeaf": true, "isRoot": false, "parents": [ 16362, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009705", "MEDGEN:388032", "MESH:C536183", "OMIM:604536", "Orphanet:158668", "SCTID:716699004", "UMLS:C1858302" ], "synonyms": [ "McGrath syndrome", "ectodermal dysplasia-skin fragility syndrome", "Mcgrath syndrome", "ectodermal dysplasia - skin fragility syndrome", "ectodermal dysplasia skin fragility syndrome", "ectodermal dysplasia/skin fragility syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering." }, "child_count": 0, "reference_id": "MONDO:0011472" }, { "id": 12677, "label": "arrhythmogenic cardiomyopathy with wooly hair and keratoderma", "isLeaf": true, "isRoot": false, "parents": [ 19138, 23832 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090128", "GARD:0005595", "MEDGEN:340124", "MESH:C535581", "OMIM:605676", "Orphanet:65282", "SCTID:719835006", "UMLS:C1854063" ], "synonyms": [ "Carvajal syndrome", "DCWHK", "KWWH type II", "arrhythmogenic cardiomyopathy with wooly hair and keratoderma", "dilated cardiomyopathy with wooly hair and keratoderma", "keratoderma with woolly hair type II", "keratoderma with wooly hair type II", "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair", "palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair", "woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome", "woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome", "wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome", "wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome", "cardiomyopathy dilated with woolly hair and keratoderma", "cardiomyopathy dilated with wooly hair and keratoderma", "cardiomyopathy, dilated, with woolly hair and keratoderma", "cardiomyopathy, dilated, with wooly hair and keratoderma", "epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "epidermolytic palmoplantar keratoderma wooly hair and dilated cardiomyopathy", "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy", "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome", "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy", "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features." }, "child_count": 0, "reference_id": "MONDO:0011581" }, { "id": 12960, "label": "Curly hair - acral keratoderma - caries syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17917, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010163", "MEDGEN:335923", "MESH:C536220", "OMIM:607656", "Orphanet:307766", "UMLS:C1843291" ], "synonyms": [ "CHACS", "Chac syndrome", "Curly hair - acral keratoderma - caries syndrome", "Chacs" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age." }, "child_count": 0, "reference_id": "MONDO:0011883" }, { "id": 12961, "label": "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17919, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017384", "MEDGEN:375146", "MESH:C564357", "OMIM:607658", "Orphanet:307936", "SCTID:763658004", "UMLS:C1843285" ], "synonyms": [ "HOPP syndrome", "hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome", "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome", "hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome", "hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome", "Hopp syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed." }, "child_count": 0, "reference_id": "MONDO:0011884" }, { "id": 13079, "label": "Lelis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010367", "MEDGEN:334042", "MESH:C564261", "OMIM:608290", "Orphanet:140936", "SCTID:719429003", "UMLS:C1842307" ], "synonyms": [ "Lelis syndrome", "ectodermal dysplasia-acanthosis nigricans syndrome", "ectodermal dysplasia, hypohidrotic, with acanthosis nigricans" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans." }, "child_count": 0, "reference_id": "MONDO:0012008" }, { "id": 13893, "label": "Fontaine progeroid syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 16199, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004497", "ICD9:759.89", "MEDGEN:394125", "MESH:C537290", "NORD:1201", "OMIM:233500", "OMIM:612289", "Orphanet:2095", "Orphanet:2963", "Orphanet:697101", "SCTID:205800003", "UMLS:C2676780" ], "synonyms": [ "FPS", "Fontaine progeroid syndrome", "GCM syndrome", "GCMS", "Gorlin Chaudhry Moss syndrome", "Gorlin-Chaudhry-Moss Syndrome", "Gorlin-Chaudhry-Moss syndrome", "Petty syndrome", "Petty-Laxova-Wiedemann syndrome", "craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence", "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora", "craniofacial dysostosis-genital, dental, cardiac anomalies syndrome", "cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome", "dental and eye anomalies, patent ductus arteriosus, and normal intelligence", "dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome", "progeroid syndrome Petty type", "progeroid syndrome congenital Petty type", "progeroid syndrome, Petty type", "progeroid syndrome, congenital, Petty type", "Petty Laxova Wiedemann syndrome", "craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated." }, "child_count": 0, "reference_id": "MONDO:0012853" }, { "id": 14346, "label": "ectodermal dysplasia-syndactyly syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017198", "MEDGEN:1648397", "OMIMPS:613573", "Orphanet:247820", "UMLS:C4749852" ], "synonyms": [ "EDSS", "EDSS1", "ectodermal dysplasia-syndactyly syndrome type 1", "ectodermal dysplasia-syndactyly syndrome 1" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet." }, "child_count": 2, "reference_id": "MONDO:0013311" }, { "id": 14983, "label": "ectodermal dysplasia 5, hair/nail type", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111657", "GARD:0018063", "MEDGEN:767022", "OMIM:614927", "UMLS:C3554108" ], "synonyms": [ "ECTD5", "ectodermal dysplasia 5, hair/nail type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0013973" }, { "id": 15460, "label": "nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17919, 19138, 19140 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017703", "MEDGEN:863424", "OMIM:616029", "Orphanet:423454", "UMLS:C4014987" ], "synonyms": [ "ectodermal dysplasia-short stature syndrome", "short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome", "ECTDS", "ectodermal dysplasia/short stature syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed." }, "child_count": 0, "reference_id": "MONDO:0014460" }, { "id": 16000, "label": "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111652", "GARD:0018593", "MEDGEN:934583", "OMIM:617337", "UMLS:C4310616" ], "synonyms": [ "ECTD12", "KDF1 ectodermal dysplasia syndrome", "ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type", "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12", "ectodermal dysplasia syndrome caused by mutation in KDF1" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene." }, "child_count": 0, "reference_id": "MONDO:0015024" }, { "id": 16162, "label": "cardiofaciocutaneous syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16087, 19138, 19780 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060233", "GARD:0009146", "MEDGEN:266149", "MESH:C535579", "NANDO:1200462", "NANDO:2200967", "NCIT:C84617", "NORD:891", "OMIMPS:115150", "Orphanet:1340", "SCTID:403770008", "UMLS:C1275081" ], "synonyms": [ "CFC", "CFC syndrome", "cardiofaciocutaneous (CFC) syndrome", "cardiofaciocutaneous syndrome", "cardio-facio-cutaneous syndrome", "congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability." }, "child_count": 12, "reference_id": "MONDO:0015280" }, { "id": 16274, "label": "choroidal atrophy-alopecia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003704", "MEDGEN:419316", "MESH:C535810", "Orphanet:1433", "SCTID:720850008", "UMLS:C2931026" ], "synonyms": [ "Moloney syndrome", "regional choroidal atrophy and alopecia", "choroidal atrophy alopecia", "fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails." }, "child_count": 0, "reference_id": "MONDO:0015428" }, { "id": 16534, "label": "dyskeratosis congenita", "isLeaf": false, "isRoot": false, "parents": [ 16218, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2729", "GARD:0010905", "MEDGEN:78580", "MESH:D019871", "MedDRA:10062759", "NANDO:1200304", "NANDO:1200342", "NANDO:2200715", "NCIT:C111802", "NORD:1071", "OMIMPS:127550", "Orphanet:1775", "SCTID:74911008", "UMLS:C0265965", "icd11.foundation:1531033936" ], "synonyms": [ "DC", "DKC", "Zinsser-Engman-Cole syndrome", "dyskeratosis congenita", "Hoyeraal-Hreidarsson syndrome", "Zinsser Cole Engman syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." }, "child_count": 32, "reference_id": "MONDO:0015780" }, { "id": 16601, "label": "hidrotic ectodermal dysplasia, Halal type", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000280", "MEDGEN:443941", "MESH:C535621", "Orphanet:1809", "SCTID:721147000", "UMLS:C2930953", "icd11.foundation:1668450131" ], "synonyms": [ "Halal-Setton-Wang syndrome", "ectodermal dysplasia with skin anomalies and intellectual disability", "trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome", "Halal Setton Wang syndrome", "hidrotic ectodermal dysplasia Halal type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." }, "child_count": 0, "reference_id": "MONDO:0015883" }, { "id": 16912, "label": "hypertrichosis lanuginosa congenita", "isLeaf": false, "isRoot": false, "parents": [ 19135, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002865", "MEDGEN:66727", "MESH:C538389", "OMIM:145700", "Orphanet:2222", "SCTID:201163007", "UMLS:C0235864", "icd11.foundation:199539869" ], "synonyms": [ "hypertrichosis lanuginosa congenita", "hypertrichosis universalis", "congenital hypertrichosis lanuginosa", "hypertrichosis lanuginosa universalis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." }, "child_count": 4, "reference_id": "MONDO:0016381" }, { "id": 17032, "label": "hypohidrotic ectodermal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 19138, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14793", "GARD:0000076", "HP:0007607", "MEDGEN:1853123", "NANDO:2201005", "NCIT:C84562", "NORD:1272", "Orphanet:238468", "UMLS:C5848103", "icd11.foundation:673167184" ], "synonyms": [ "HED", "anhidrotic ectodermal dysplasia", "anhidrotic ectodermal dysplasia 1", "anhidrotic ectodermal dysplasia 3", "ectodermal dysplasia 1, Anhydrotic", "hypohidrotic X-linked ectodermal dysplasia", "CST syndrome", "EDA", "ectodermal dysplasia anhidrotic", "ectodermal dysplasia, hypohidrotic" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency)." }, "child_count": 8, "reference_id": "MONDO:0016535" }, { "id": 17494, "label": "odonto-onycho dysplasia-alopecia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004051", "MEDGEN:1648007", "Orphanet:2722", "UMLS:C4706599" ], "synonyms": [ "odonto onycho dysplasia with alopecia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985." }, "child_count": 0, "reference_id": "MONDO:0017134" }, { "id": 17640, "label": "pili torti-onychodysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004364", "MEDGEN:1375227", "Orphanet:2890", "UMLS:C4509919" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Pili torti-onychodysplasia is a form of ectodermal dysplasia characterized by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0017321" }, { "id": 18084, "label": "chondroectodermal dysplasia with night blindness", "isLeaf": true, "isRoot": false, "parents": [ 7019, 18360, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021408", "MEDGEN:1641815", "Orphanet:319195", "UMLS:C4706300" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates." }, "child_count": 0, "reference_id": "MONDO:0017869" }, { "id": 18149, "label": "trichorhinophalangeal syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19138, 19473 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021451", "ICD9:759.89", "MEDGEN:539179", "OMIMPS:190350", "Orphanet:324764", "SCTID:18077009", "UMLS:C0265255" ], "synonyms": [ "TRPS" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 4, "reference_id": "MONDO:0017951" }, { "id": 18217, "label": "trichothiodystrophy", "isLeaf": false, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111866", "GARD:0012109", "MEDGEN:363064", "MedDRA:10044628", "NANDO:1200627", "NCIT:C4924", "NORD:1292", "OMIMPS:601675", "Orphanet:33364", "SCTID:723551003", "UMLS:C1955934", "icd11.foundation:1366758649" ], "synonyms": [ "trichothiodystrophy syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins)." }, "child_count": 7, "reference_id": "MONDO:0018053" }, { "id": 18224, "label": "trichodermodysplasia-dental alterations syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004369", "MEDGEN:419092", "MESH:C537402", "Orphanet:3353", "UMLS:C2931485" ], "synonyms": [ "Pinheiro-Freire Maia-Miranda syndrome", "Pinheiro Freire-Maia Miranda syndrome", "Trichodermodysplasia with dental alterations" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986." }, "child_count": 0, "reference_id": "MONDO:0018061" }, { "id": 18225, "label": "autosomal dominant trichoodontoonychodysplasia-syndactyly", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005376", "MEDGEN:419366", "MESH:C536565", "Orphanet:3357", "UMLS:C2931239" ], "synonyms": [ "Trueb-Burg-Bottani syndrome", "Tricho-odonto-onychodysplasia with syndactyly", "Trueb Burg Bottani syndrome", "ectodermal dysplasia with corkscrew hairs" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0018062" }, { "id": 18446, "label": "focal facial dermal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008416", "MEDGEN:445408", "MESH:C537068", "OMIMPS:136500", "Orphanet:398166", "UMLS:C2936827", "icd11.foundation:1200544726" ], "synonyms": [ "FFDD" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies." }, "child_count": 3, "reference_id": "MONDO:0018363" }, { "id": 18741, "label": "KID syndrome", "isLeaf": false, "isRoot": false, "parents": [ 17917, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003113", "ICD9:759.89", "MEDGEN:777082", "MESH:C536168", "MedDRA:10048786", "NANDO:1200621", "NANDO:2200996", "NORD:1326", "OMIMPS:148210", "Orphanet:477", "SCTID:2625009", "UMLS:C3665333" ], "synonyms": [ "KID/HID syndrome", "Keratitis Ichthyosis Deafness Syndrome", "Senter syndrome", "ichthyosis hystrix Rheydt type", "keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome", "keratitis, ichthyosis, and deafness (KID) syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss." }, "child_count": 6, "reference_id": "MONDO:0018781" }, { "id": 18963, "label": "pure hair and nail ectodermal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111655", "GARD:0016680", "MEDGEN:1875649", "Orphanet:69084", "UMLS:C5979821" ], "synonyms": [ "HNED", "PHNED", "hair-nail ectodermal dysplasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant." }, "child_count": 4, "reference_id": "MONDO:0019071" }, { "id": 18968, "label": "circumscribed palmoplantar hypokeratosis", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018898", "MEDGEN:590662", "Orphanet:69744", "UMLS:C0406762" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterized by circular, well-circumscribed patches of erythematous depressed skin." }, "child_count": 0, "reference_id": "MONDO:0019076" }, { "id": 19075, "label": "trichodysplasia-amelogenesis imperfecta syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018943", "MEDGEN:930013", "Orphanet:79129", "UMLS:C4304344" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked." }, "child_count": 0, "reference_id": "MONDO:0019205" }, { "id": 19932, "label": "dermotrichic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019683", "MEDGEN:1672480", "Orphanet:99688", "UMLS:C0795919" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0020475" }, { "id": 20857, "label": "alves Castelo dos Santos syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025363", "MEDGEN:419758", "MESH:C536593", "UMLS:C2931256" ], "synonyms": [ "ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022432" }, { "id": 20910, "label": "Brunoni syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001032", "MEDGEN:444066", "MESH:C537408", "UMLS:C2931486" ], "synonyms": [ "mesomelia, radial hypoplasia bifid thumb unusual facies", "mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0022611" }, { "id": 21108, "label": "ectodermal dysplasia Bartalos type", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023040" }, { "id": 21109, "label": "ectodermal dysplasia margarita type", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023042" }, { "id": 21110, "label": "ectodermal dysplasia alopecia preaxial polydactyly", "isLeaf": true, "isRoot": false, "parents": [ 6660, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002040", "MEDGEN:419138", "MESH:C538016", "UMLS:C2931691" ], "synonyms": [ "absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023043" }, { "id": 21111, "label": "ectodermal dysplasia arthrogryposis diabetes mellitus", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023045" }, { "id": 21112, "label": "ectodermal dysplasia blindness", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023046" }, { "id": 21113, "label": "ectodermal dysplasia neurosensory deafness", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0023048" }, { "id": 22274, "label": "ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111662", "GARD:0025707", "MEDGEN:1648329", "OMIM:618180", "Orphanet:685067", "UMLS:C4748560" ], "synonyms": [ "ECTD14", "ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0032584" }, { "id": 22461, "label": "ectodermal dysplasia 15, hypohidrotic/hair type", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111651", "GARD:0016361", "MEDGEN:1680605", "OMIM:618535", "UMLS:C5193145" ], "synonyms": [ "ECTD15", "ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0032804" }, { "id": 22802, "label": "linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies", "isLeaf": true, "isRoot": false, "parents": [ 19138, 19141 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022358", "MEDGEN:1806249", "Orphanet:589608", "UMLS:C5680313" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0035124" }, { "id": 23127, "label": "jones hersh yusk syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003055", "MEDGEN:418974", "MESH:C535885", "UMLS:C2931054" ], "synonyms": [ "aplasia cutis cleft palate epidermolysis", "aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly", "ptosis, ectropion, thin skin, beaked nose" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0043110" }, { "id": 23309, "label": "ectodermal dysplasia 13, hair/tooth type", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111650", "GARD:0025888", "MEDGEN:1387448", "OMIM:617392", "UMLS:C4479322" ], "synonyms": [ "ectodermal dysplasia 13, hair/tooth type", "ECTD13" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0044305" }, { "id": 23353, "label": "arthrogryposis-ectodermal dysplasia-other anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138, 19660 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005029", "MEDGEN:1674099", "Orphanet:3200", "UMLS:C5191837" ], "synonyms": [ "Stoll-Alembik-Finck syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0044406" }, { "id": 24086, "label": "ectodermal dysplasia WNT10A related", "isLeaf": false, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026153" ], "synonyms": [ "ectodermal dysplasia WNT10A related" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 3, "reference_id": "MONDO:0100358" }, { "id": 25051, "label": "CTSC-related disorder", "isLeaf": false, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026566" ], "synonyms": [ "CTSC-related disorder" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance." }, "child_count": 3, "reference_id": "MONDO:0800465" }, { "id": 26237, "label": "ectodermal dysplasia 17 with or without limb malformations", "isLeaf": true, "isRoot": false, "parents": [ 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028106", "MEDGEN:1876515", "OMIM:621224", "UMLS:C6012731" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0979228" } ], "roots": [ { "id": 4370, "label": "syndromic disease" }, { "id": 20277, "label": "hereditary epidermal appendage anomaly" }, { "id": 23867, "label": "hereditary skin disorder" } ] }