has material basis in germline mutation in SLC29A3 laryngeal disorder diabetes mellitus type 1 diabetes mellitus sinus histiocytosis with massive lymphadenopathy H syndrome https://github.com/monarch-initiative/mondo/issues/5723 https://rarediseases.info.nih.gov/diseases/581/asrar-facharzt-haque-syndrome DOID:0111278 icd11.foundation:107155297 SLC29A3 spectrum disorder Asrar Facharzt Haque syndrome sinus histiocytosis and massive lymphadenopathy MESH:C535391 histiocytosis with Joint contractures and sensorineural deafness NANDO:2200457 UMLS:C1864445 SCTID:711159002 histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness pigmented hypertrichosis with insulin-dependent diabetes mellitus MONDO:0011273 Rosai-Dorfman disease, familial Orphanet:168569 hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss H syndrome GARD:0010239 MESH:C538322 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). HJCD MEDGEN:400532 Faisalabad histiocytosis histiocytosis-lymphadenopathy plus syndrome OMIM:602782 hyperpigmentation of the skin hereditary skin disorder