| http://purl.uniprot.org/diseases/6321 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/6321 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone, and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH26 is characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Some affected individuals also exhibit craniosynostosis. Inheritance can be autosomal dominant or autosomal recessive."xsd:string |
| http://purl.uniprot.org/diseases/6321 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1016 |
| http://purl.uniprot.org/diseases/6321 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/956 |
| http://purl.uniprot.org/diseases/6321 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/619718 |
| http://purl.uniprot.org/diseases/6321 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D017436 |
| http://purl.uniprot.org/diseases/6321 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN306196 |
| http://purl.uniprot.org/diseases/6321 | http://www.w3.org/2004/02/skos/core#prefLabel | "Hypogonadotropic hypogonadism 26 with or without anosmia"xsd:string |
| http://purl.uniprot.org/diseases/6321 | http://purl.uniprot.org/core/mnemonic | "HH26"xsd:string |
| http://purl.uniprot.org/uniprot/Q99081#SIP06B7175CB85712B2 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6321 |
| http://purl.uniprot.org/uniprot/#_61FA13015D32BC2B_up.disease_0682A41D6164700B | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6321 |