| http://purl.uniprot.org/diseases/42 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/42 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life."xsd:string |
| http://purl.uniprot.org/diseases/42 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/954 |
| http://purl.uniprot.org/diseases/42 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/201810 |
| http://purl.uniprot.org/diseases/42 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D000312 |
| http://purl.uniprot.org/diseases/42 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0342471 |
| http://purl.uniprot.org/diseases/42 | http://www.w3.org/2004/02/skos/core#prefLabel | "Adrenal hyperplasia 2"xsd:string |
| http://purl.uniprot.org/diseases/42 | http://purl.uniprot.org/core/mnemonic | "AH2"xsd:string |
| http://purl.uniprot.org/diseases/42 | http://www.w3.org/2004/02/skos/core#altLabel | "3-beta-HSD deficiency"xsd:string |
| http://purl.uniprot.org/diseases/42 | http://www.w3.org/2004/02/skos/core#altLabel | "3-beta-hydroxysteroid dehydrogenase type II deficiency"xsd:string |
| http://purl.uniprot.org/diseases/42 | http://www.w3.org/2004/02/skos/core#altLabel | "AH-II"xsd:string |
| http://purl.uniprot.org/diseases/42 | http://www.w3.org/2004/02/skos/core#altLabel | "Adrenal hyperplasia type II"xsd:string |
| http://purl.uniprot.org/diseases/42 | http://www.w3.org/2004/02/skos/core#altLabel | "Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency"xsd:string |
| http://purl.uniprot.org/diseases/42 | http://www.w3.org/2004/02/skos/core#altLabel | "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency"xsd:string |
| http://purl.uniprot.org/uniprot/P26439#SIPB50278B2F13574FF | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/42 |
| http://purl.uniprot.org/annotation/VAR_000006 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/42 |
| http://purl.uniprot.org/annotation/VAR_000007 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/42 |
| http://purl.uniprot.org/annotation/VAR_000008 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/42 |
| http://purl.uniprot.org/annotation/VAR_000009 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/42 |
| http://purl.uniprot.org/annotation/VAR_000010 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/42 |
| http://purl.uniprot.org/annotation/VAR_000011 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/42 |
| http://purl.uniprot.org/annotation/VAR_010517 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/42 |
| http://purl.uniprot.org/annotation/VAR_010518 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/42 |
| http://purl.uniprot.org/annotation/VAR_010519 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/42 |
| http://purl.uniprot.org/annotation/VAR_010520 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/42 |