H syndrome
http://purl.obolibrary.org/obo/MONDO_0011273
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). [ Orphanet:168569 https://orcid.org/0000-0001-5208-3432 ]
Term info
- DOID:0111278 (MONDO:equivalentTo)
- GARD:0000581 (MONDO:equivalentTo)
- UMLS:C1864445 (OMIM:602782)
- SCTID:711159002 (MONDO:equivalentTo)
- UMLS:C2930890 (MONDO:equivalentTo)
- MESH:C535391 (MONDO:equivalentTo)
- Orphanet:158014 (OMIM:602782)
- Orphanet:168569 (OMIM:602782)
- MESH:C538322 (MONDO:equivalentTo)
- GARD:0010239 (MONDO:equivalentTo)
- OMIM:602782 (Orphanet:168569/e)
gard_rare, ordo_malformation_syndrome
https://github.com/monarch-initiative/mondo/issues/5723
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).
http://purl.obolibrary.org/obo/Orphanet_168569, http://identifiers.org/mesh/C535391, http://identifiers.org/snomedct/711159002, http://linkedlifedata.com/resource/umls/id/C2930890, http://linkedlifedata.com/resource/umls/id/C1864445, http://purl.obolibrary.org/obo/DOID_0111278, https://omim.org/entry/602782, http://identifiers.org/mesh/C538322
http://purl.obolibrary.org/obo/MONDO_0005147, http://purl.obolibrary.org/obo/MONDO_0005015
H syndrome, Asrar Facharzt Haque syndrome
hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss, HJCD, histiocytosis-lymphadenopathy plus syndrome, histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness, histiocytosis with Joint contractures and sensorineural deafness, sinus histiocytosis and massive lymphadenopathy, SLC29A3 spectrum disorder, Rosai-Dorfman disease, familial, pigmented hypertrichosis with insulin-dependent diabetes mellitus, Faisalabad histiocytosis
MONDO:0011273
https://rarediseases.info.nih.gov/diseases/581/asrar-facharzt-haque-syndrome