autosomal recessive Alport syndrome
http://purl.obolibrary.org/obo/MONDO_0008762
Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed. [ https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome ]
Term info
- MedDRA:10001843 (Orphanet:88919/e)
- DOID:0110033 (MONDO:equivalentTo)
- OMIM:203780 (Orphanet:88919/e)
- GARD:0000625 (MONDO:equivalentTo)
- SCTID:717767009 (MONDO:equivalentTo)
- Orphanet:88919 (OMIM:203780)
gard_rare, ordo_etiological_subtype
https://github.com/monarch-initiative/mondo/issues/4521
http://identifiers.org/meddra/10001843
Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.
https://omim.org/entry/203780, http://purl.obolibrary.org/obo/DOID_0110033, http://purl.obolibrary.org/obo/Orphanet_88919, http://identifiers.org/snomedct/717767009
Alport syndrome 2, autosomal recessive, Alport syndrome, autosomal recessive
nephropathy and deafness, Alport syndrome autosomal recessive, Alport syndrome recessive type
MONDO:0008762
https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome