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Last uploaded: November 5, 2019

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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 Pseudohypoparathyroidisms, Type Ia Pseudohypoparathyroidism, Type Ib PHD Ib Pseudohypoparathyroidisms Pseudohypoparathyroidism, Type Ia PHD Ibs 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.
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 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D019205
Inverse of SIB	http://purl.bioontology.org/ontology/MESH/D009081 http://purl.bioontology.org/ontology/MESH/D007706 http://purl.bioontology.org/ontology/MESH/D012279 http://purl.bioontology.org/ontology/MESH/D010024 http://purl.bioontology.org/ontology/MESH/D002114 http://purl.bioontology.org/ontology/MESH/D007014 http://purl.bioontology.org/ontology/MESH/D006432 http://purl.bioontology.org/ontology/MESH/D010245 http://purl.bioontology.org/ontology/MESH/D006527 http://purl.bioontology.org/ontology/MESH/D003649 http://purl.bioontology.org/ontology/MESH/D018488 http://purl.bioontology.org/ontology/MESH/D006996 http://purl.bioontology.org/ontology/MESH/D007015 http://purl.bioontology.org/ontology/MESH/D006934
Machine permutation	65
Mapped from	http://purl.bioontology.org/ontology/MESH/C548076 http://purl.bioontology.org/ontology/MESH/C537045 http://purl.bioontology.org/ontology/MESH/C548075 http://purl.bioontology.org/ontology/MESH/C548077
MDA	19990101
MMR	20151124
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 T817672 T817653 T817651 T034094 T817650 T808402
TH	NLM (2013) NLM (1963) OMIM (2013)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D002128 http://purl.bioontology.org/ontology/MESH/D008664 http://purl.bioontology.org/ontology/MESH/D001851

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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99027	National Cancer Institute Thesaurus	LOOM
http://purl.bioontology.org/ontology/ICD10CM/E20.1	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/ICD10CM/E20.1	International Classification of Diseases, Version 10 - Clinical Modification	LOOM
http://purl.bioontology.org/ontology/OMIM/603233	Online Mendelian Inheritance in Man	CUI
http://purl.bmicc.cn/ontology/ICD11CN/5A50.1	International Classification of Diseases, 11th Edition, China	LOOM
http://purl.bioontology.org/ontology/OMIM/603666	Online Mendelian Inheritance in Man	CUI
http://purl.obolibrary.org/obo/DOID_4184	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU005113	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU005113	Online Mendelian Inheritance in Man	LOOM
http://purl.bioontology.org/ontology/OMIM/139320	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/139320	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/103580	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/610540	Online Mendelian Inheritance in Man	CUI
http://purl.bmicc.cn/ontology/ICD10CN/E20.1	International Classification of Diseases, 10th Edition, China	CUI
http://purl.bioontology.org/ontology/ICD10/E20.1	International Classification of Diseases, Version 10	CUI
http://purl.bioontology.org/ontology/ICD10/E20.1	International Classification of Diseases, Version 10	LOOM