Link to this page
Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C537048
http://purl.bioontology.org/ontology/MESH/C537048
|
|---|---|
| Preferred Name | Allanson Pantzar McLeod syndrome |
| Synonyms |
Renotubular dysgenesis
Renal tubular dysgenesis
Primitive renal tubule syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Renotubular dysgenesis
Renal tubular dysgenesis
Primitive renal tubule syndrome
|
|---|---|
| prefLabel | Allanson Pantzar McLeod syndrome
|
| Scope Statement | A severe autosomal recessive disorder affecting development of the kidney tubules. It is characterized by persistent fetal ANURIA and perinatal death, probably due to pulmonary hypoplasia from early-onset OLIGOHYDRAMNIOS (Potter phenotype). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. Mutations in the REN, AGT, AGTR 1, and ACE genes have been identified. OMIM: 267430
|
| type | |
| tui | T047
|
| Has mapping qualifier | |
| HM |
D014564
D007687/Q000002
|
| SC | 3
|
| TERMUI |
T741295
T741297
T741296
T741294
|
| TH |
OMIM (2013)
ORD (2010)
|
| MMR | 20150925
|
| notation | C537048
|
| Semantic type UMLS property | |
| cui | C0266313
|
| MeSH Frequency | 45
|
| DSC | 20100625
|
| Inverse of RB | 0
|
| Mapped to | |
| MDA | 20100625
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |