{ "id": 19140, "label": "hyperpigmentation of the skin", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019289", "properties": { "xrefs": [ "HP:0000953", "ICD9:709.09", "MEDGEN:57992", "Orphanet:79375", "SCTID:49765009", "UMLS:C0162834" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "isLeaf": false, "isRoot": false, "child_count": 24, "parents": [ { "id": 19139, "label": "skin pigmentation disorder", "isLeaf": false, "isRoot": false, "parents": [ 6820 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10123", "ICD9:709.09", "MEDGEN:316465", "MESH:D010859", "NCIT:C34557", "Orphanet:79374", "UMLS:C1704421" ], "synonyms": [ "pigmentation anomaly of the skin", "pigmentation disease of zone of skin", "zone of skin pigmentation disease", "pigmentation disease" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A pigmentation disease that involves the zone of skin." }, "child_count": 4, "reference_id": "MONDO:0019288" } ], "children": [ { "id": 3112, "label": "dyschromatosis universalis hereditaria", "isLeaf": false, "isRoot": false, "parents": [ 19140, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060304", "GARD:0001996", "MEDGEN:419691", "MESH:C535730", "NCIT:C173131", "OMIMPS:127500", "Orphanet:241", "SCTID:239082002", "UMLS:C2930995", "icd11.foundation:480710406" ], "synonyms": [ "dyschromatosis universalis", "DUH" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." }, "child_count": 6, "reference_id": "MONDO:0000736" }, { "id": 8650, "label": "cafe au lait spots, multiple", "isLeaf": true, "isRoot": false, "parents": [ 19140 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003967", "MEDGEN:396266", "MESH:C537421", "OMIM:114030", "Orphanet:2678", "UMLS:C1861975" ], "synonyms": [ "NF6", "autosomal dominant café au lait spots", "cafe-au-lait spots, multiple", "familial cafe-au-lait spots", "familial café-au-lait spots", "multiple cafe-au-lait spots", "multiple cafe-au-lait syndrome", "multiple café-au-lait spots", "multiple café-au-lait syndrome", "neurofibromatosis type 6" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder." }, "child_count": 0, "reference_id": "MONDO:0007245" }, { "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": 8870, "label": "dyschromatosis symmetrica hereditaria", "isLeaf": true, "isRoot": false, "parents": [ 2731, 19140, 24656 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060257", "GARD:0000334", "MEDGEN:96071", "MESH:C535729", "NCIT:C118435", "OMIM:127400", "Orphanet:41", "SCTID:239085000", "UMLS:C0406775" ], "synonyms": [ "DSH1", "RAD", "acropigmentation of Dohi", "dyschromatosis symmetrica hereditaria", "reticulate acropigmentation of Dohi", "DSH", "dyschromatosis symmetrica hereditaria 1", "familial reticulate acropigmentation of Dohi", "symmetric dyschromatosis of the extremities" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs." }, "child_count": 0, "reference_id": "MONDO:0007483" }, { "id": 8960, "label": "extrasystoles-short stature-hyperpigmentation-microcephaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19140 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002213", "MEDGEN:343564", "MESH:C565032", "OMIM:133750", "Orphanet:1964", "UMLS:C1851412" ], "synonyms": [ "Char-Douglas-Dungan syndrome", "extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975." }, "child_count": 0, "reference_id": "MONDO:0007588" }, { "id": 9012, "label": "gastrocutaneous syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19140 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002438", "MEDGEN:338154", "MESH:C535651", "OMIM:137270", "Orphanet:2069", "UMLS:C1850899", "icd11.foundation:1431211717" ], "synonyms": [ "gastrocutaneous syndrome", "peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007651" }, { "id": 9107, "label": "hyperkeratosis-hyperpigmentation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 19140, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016563", "MEDGEN:326735", "MESH:C564172", "OMIM:144190", "Orphanet:1336", "UMLS:C1840428" ], "synonyms": [ "hyperkeratosis-hyperpigmentation syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993." }, "child_count": 0, "reference_id": "MONDO:0007757" }, { "id": 9226, "label": "familial generalized lentiginosis", "isLeaf": true, "isRoot": false, "parents": [ 19140 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017158", "MEDGEN:486897", "MESH:C573023", "OMIM:151001", "Orphanet:231040", "SCTID:765195000", "UMLS:C3492944" ], "synonyms": [ "familial lentigines profusa", "familial multiple lentigines syndrome without systemic involvement", "lentiginosis profusa", "lentiginosis, diffuse", "lentiginosis, generalised", "lentiginosis, generalized", "lentiginosis, inherited patterned" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa." }, "child_count": 0, "reference_id": "MONDO:0007891" }, { "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": 9396, "label": "schwannomatosis", "isLeaf": false, "isRoot": false, "parents": [ 4599, 4612, 19140, 19507, 20303, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3204", "GARD:0004768", "ICD10CM:Q85.03", "ICD9:237.73", "ICDO:9560/1", "MEDGEN:234775", "NCIT:C6557", "OMIMPS:162091", "Orphanet:93921", "UMLS:C1335929" ], "synonyms": [ "NF3", "Neurinomatosis", "Schwannomatosis", "neurilemmomatosis", "neurofibromatosis type 3", "schwannomatosis", "schwannomatosis, NEC", "schwannomatosis, NOS", "congenital cutaneous neurilemmomatosis", "neurilemmomatosis congenital cutaneous", "neurilemmomatosis, congenital cutaneous", "neurinoma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium." }, "child_count": 24, "reference_id": "MONDO:0008075" }, { "id": 9670, "label": "Dowling-Degos disease", "isLeaf": false, "isRoot": false, "parents": [ 2731, 17976, 19140 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060256", "GARD:0009775", "MEDGEN:811363", "MESH:C562924", "MedDRA:10068651", "Orphanet:79145", "UMLS:C3714534", "icd11.foundation:15123132" ], "synonyms": [ "Dowling-Degos disease type 1", "reticular pigment anomaly of flexures", "DDD1", "Dowling-Degos Kitamura disease", "Dowling-Degos disease 1" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases." }, "child_count": 12, "reference_id": "MONDO:0008371" }, { "id": 12393, "label": "H syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6195, 7931, 19140, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111278", "GARD:0010239", "MEDGEN:400532", "MESH:C535391", "MESH:C538322", "NANDO:2200457", "OMIM:602782", "Orphanet:168569", "SCTID:711159002", "UMLS:C1864445", "icd11.foundation:107155297" ], "synonyms": [ "Asrar Facharzt Haque syndrome", "H syndrome", "Faisalabad histiocytosis", "HJCD", "Rosai-Dorfman disease, familial", "SLC29A3 spectrum disorder", "histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness", "histiocytosis with Joint contractures and sensorineural deafness", "histiocytosis-lymphadenopathy plus syndrome", "hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss", "pigmented hypertrichosis with insulin-dependent diabetes mellitus", "sinus histiocytosis and massive lymphadenopathy" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)." }, "child_count": 0, "reference_id": "MONDO:0011273" }, { "id": 13709, "label": "Legius syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19140, 19507, 19780, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070484", "GARD:0010714", "ICD9:709.09", "MEDGEN:370709", "MESH:C548032", "NCIT:C176941", "OMIM:611431", "Orphanet:137605", "SCTID:703541007", "UMLS:C1969623", "icd11.foundation:1025118245" ], "synonyms": [ "Legius syndrome", "NF1-like syndrome", "neurofibromatosis 1-like syndrome", "neurofibromatosis type 1 like syndrome", "neurofibromatosis type 1-like syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling." }, "child_count": 0, "reference_id": "MONDO:0012669" }, { "id": 14672, "label": "familial progressive hyperpigmentation", "isLeaf": false, "isRoot": false, "parents": [ 19140 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016706", "OMIM:614233", "Orphanet:79146", "SCTID:715630006", "icd11.foundation:1808730427" ], "synonyms": [ "melanosis diffusa congenita", "melanosis universalis hereditaria", "universal melanosis", "FPH1", "Fph", "hyperpigmentation, familial progressive, 1" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated." }, "child_count": 1, "reference_id": "MONDO:0013648" }, { "id": 14710, "label": "linear and whorled nevoid hypermelanosis", "isLeaf": true, "isRoot": false, "parents": [ 7993, 12600, 19140 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0011004", "MEDGEN:473394", "NCIT:C3924", "OMIM:614323", "Orphanet:79150", "SCTID:403803002", "UMLS:C1304501" ], "synonyms": [ "Becker Nevus", "Becker's Nevus", "linear papular ectodermal-mesodermal hamartoma", "melanosis Neviformis", "pigmented hairy Epidermal Nevus", "pigmented hairy Nevus of Becker", "progressive cribriform and zosteriform hyperpigmentation", "LWNH", "hyperpigmentation, progressive cribriform and zosteriform", "linear and whorled hypermelanosis", "nevoid hypermelanosis, linear and whorled", "reticulate hyperpigmentation of Iijima", "zebra-like hyperpigmentation", "zosteriform hyperpigmentation", "zosteriform lentiginous nevus" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism." }, "child_count": 0, "reference_id": "MONDO:0013688" }, { "id": 15240, "label": "reticulate acropigmentation of Kitamura", "isLeaf": true, "isRoot": false, "parents": [ 2731, 19140 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060258", "GARD:0017079", "ICD9:709.09", "MEDGEN:98363", "OMIM:615537", "Orphanet:178307", "SCTID:239133004", "UMLS:C0406811" ], "synonyms": [ "reticulate acropigmentation of Kitamura", "Kitamura reticulate acropigmentation", "RAK", "acropigmentatio reticularis", "reticulate pigmentation of Kitamura" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." }, "child_count": 0, "reference_id": "MONDO:0014234" }, { "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": 15867, "label": "severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19140, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017895", "MEDGEN:934712", "OMIM:617051", "Orphanet:488627", "UMLS:C4310745" ], "synonyms": [ "MRT55", "intellectual disability, autosomal recessive 55", "intellectual disability, autosomal recessive type 55", "mental retardation, autosomal recessive 55", "mental retardation, autosomal recessive type 55", "neurodevelopmental disorder with microcephaly and gray sclerae", "neurodevelopmental disorder with microcephaly and grey sclerae" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014886" }, { "id": 16796, "label": "leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19140 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020448", "MEDGEN:1654873", "Orphanet:210133", "UMLS:C4751169" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy." }, "child_count": 0, "reference_id": "MONDO:0016213" }, { "id": 17539, "label": "osteopathia striata-pigmentary dermopathy-white forelock syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19140, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005562", "MEDGEN:419711", "MESH:C536054", "Orphanet:2779", "UMLS:C2931096" ], "synonyms": [ "Whyte-Murphy syndrome", "Whyte Murphy syndrome", "osteopathia striata associated with familial dermopathy and white forelock", "osteopathia striata with pigmentary dermopathy including white forelock" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock." }, "child_count": 0, "reference_id": "MONDO:0017197" }, { "id": 17637, "label": "phakomatosis pigmentovascularis", "isLeaf": false, "isRoot": false, "parents": [ 7019, 19140, 19507, 23107 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004312", "ICD9:709.09", "MEDGEN:220888", "MESH:C537894", "Orphanet:2875", "SCTID:403545005", "UMLS:C1274879", "icd11.foundation:1768130414" ], "synonyms": [ "phakomatosis pigmentovascularis", "port-wine stain with oculocutaneous melanosis", "PPv", "Phacomatosis pigmentovascularis", "association of cutaneous vascular malformations and different pigmentary disorders" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 12, "reference_id": "MONDO:0017318" }, { "id": 18408, "label": "acromelanosis", "isLeaf": true, "isRoot": false, "parents": [ 19140 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004500", "ICD9:709.09", "MEDGEN:98038", "Orphanet:39", "SCTID:239089006", "UMLS:C0406779" ], "synonyms": [ "progressive acromelanosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life." }, "child_count": 0, "reference_id": "MONDO:0018311" }, { "id": 24949, "label": "hyperpigmentation, progressive cribriform and zosteriform", "isLeaf": true, "isRoot": false, "parents": [ 19140 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026520", "MEDGEN:75526", "UMLS:C0263579" ], "synonyms": [ "PCZH" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0800357" }, { "id": 25274, "label": "mosaic Legius syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19140 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026650", "MEDGEN:1843406", "Orphanet:634511", "UMLS:C5816780" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859007" } ], "roots": [ { "id": 19139, "label": "skin pigmentation disorder" } ] }