loading...| Preferred Name |
Pseudohypoparathyroidism |
| Synonyms |
Pseudohypoparathyroidisms, Type Ib |
| 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. |
| ID |
http://purl.bioontology.org/ontology/MESH/D011547 |
| altLabel |
Pseudohypoparathyroidisms, Type Ib Type Ib Pseudohypoparathyroidisms PHD1b PHPIa Pseudohypoparathyroidisms, Type Ia Pseudohypoparathyroidism, Type Ib PHD Ib Pseudohypoparathyroidisms Albright Hereditary Osteodystrophy Osteodystrophy, Albright Hereditary Pseudohypoparathyroidism, Type Ia Hereditary Osteodystrophy, Albright PHP Ia Type Ia Pseudohypoparathyroidisms Type Ia Pseudohypoparathyroidism Type Ib Pseudohypoparathyroidism Albright Hereditary Osteodystrophy with Multiple Hormone Resistance |
| 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 |
| cui |
C1864100 C3494506 C0033806 |
| DC |
1 |
| 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. |
| DX |
19650101 |
| FX |
D019205 |
| HN |
65(63) |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Machine permutation |
65 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C548076 |
| MDA |
19990101 |
| MMR |
20200527 |
| MN |
C18.452.104.709 C05.116.198.709 C18.452.648.618.815 C18.452.174.766 C16.320.565.618.815 |
| notation |
D011547 |
| prefLabel |
Pseudohypoparathyroidism |
| TERMUI |
T817671 T001009888 T817672 T001009889 T817653 T817651 T034094 T817650 T808402 |
| TH |
NLM (2013) NLM (1963) NLM (2021) ORD (2010) OMIM (2013) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D002128 |