Link to this page
Medical Subject Headings
| Id | http://purl.bioontology.org/ontology/MESH/D011547
http://purl.bioontology.org/ontology/MESH/D011547
|
|---|---|
| Preferred Name | Pseudohypoparathyroidism |
| Definitions |
A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.
A syndrome characterized by variable features such as short stature, obesity, round face, subcutaneous ossifications, and BRACHYDACTYLY. It is associated with resistance to PARATHYROID HORMONE and THYROTROPIN. The autosomal dominant inherited form (PSEUDOHYPOPARATHYROIDISM, TYPE IA) is caused by mutations in the GNAS gene. OMIM: 103580.
|
| Synonyms |
Hereditary Osteodystrophy, Albright
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance
Pseudohypoparathyroidisms, Type Ia
PHD Ib
Albright Hereditary Osteodystrophy
Pseudohypoparathyroidism, Type Ib
Type Ia Pseudohypoparathyroidism
Type Ib Pseudohypoparathyroidisms
Type Ib Pseudohypoparathyroidism
Type Ia Pseudohypoparathyroidisms
PHPIa
Osteodystrophy, Albright Hereditary
Pseudohypoparathyroidism Type 1Bs
Pseudohypoparathyroidism Type 1B
PHD1b
Pseudohypoparathyroidisms
Pseudohypoparathyroidism, Type Ia
PHP Ia
Pseudohypoparathyroidisms, Type Ib
See more
See less
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN. A syndrome characterized by variable features such as short stature, obesity, round face, subcutaneous ossifications, and BRACHYDACTYLY. It is associated with resistance to PARATHYROID HORMONE and THYROTROPIN. The autosomal dominant inherited form (PSEUDOHYPOPARATHYROIDISM, TYPE IA) is caused by mutations in the GNAS gene. OMIM: 103580. |
|---|---|
| altLabel |
Hereditary Osteodystrophy, Albright
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance
Pseudohypoparathyroidisms, Type Ia
PHD Ib
Albright Hereditary Osteodystrophy
Pseudohypoparathyroidism, Type Ib
Type Ia Pseudohypoparathyroidism
Type Ib Pseudohypoparathyroidisms
Type Ib Pseudohypoparathyroidism
Type Ia Pseudohypoparathyroidisms
PHPIa
Osteodystrophy, Albright Hereditary
Pseudohypoparathyroidism Type 1Bs
Pseudohypoparathyroidism Type 1B
PHD1b
Pseudohypoparathyroidisms
Pseudohypoparathyroidism, Type Ia
PHP Ia
Pseudohypoparathyroidisms, Type Ib
See more
See less
|
| prefLabel | Pseudohypoparathyroidism
|
| Machine permutation | 65
|
| HN | 65(63)
|
| Mapped from | |
| type | |
| tui | T047
|
| TERMUI |
T808402
T001009888
T817672
T817651
T817650
T817653
T767951
T001009889
T817671
T034094
See more
See less
|
| TH |
OMIM (2013)
ORD (2011)
NLM (1963)
NLM (2021)
OMIM (2016)
NLM (2013)
ORD (2010)
See more
See less
|
| MMR | 20230405
|
| notation | D011547
|
| Inverse of RO | |
| Semantic type UMLS property | |
| Inverse of AQ |
See more
See less
|
| FX | D019205
|
| DX | 19650101
|
| cui |
C3494506
C0033806
C1864100
|
| DC | 1
|
| MN |
C18.452.648.618.815
C16.320.565.618.815
C18.452.174.766
C05.116.198.709
C18.452.104.709
|
| AN | do not confuse with PSEUDOPSEUDOHYPOPARATHYROIDISM
|
| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| MDA | 19990101
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |