DiseaseID 5002
假性甲状旁腺功能减退症
disease
MSH2017_2016_08_12:A form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to hormones such as PARATHYROID HORMONE. It is associated with paternally inherited mutant alleles
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Symptom: 12Target: 12Links: 24
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5002
- Core Entity Id
- 61436
- Source Entity Count
- 1
- Preferred Name
- Pseudohypoparathyroidism
- Name Cn
- 假性甲状旁腺功能减退症
- Name Pinyin
- Jia Xing Jia Zhuang Pang Xian Gong Neng Jian Tui Zheng
- Name En
- Pseudohypoparathyroidism
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Abnormality of the endocrine system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
- Hpo Class Name
- Abnormality of the endocrine system
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- MSH2017_2016_08_12:A form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to hormones such as PARATHYROID HORMONE. It is associated with paternally inherited mutant alleles of the ALPHA CHAIN OF STIMULATORY G PROTEIN.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Pseudohypoparathyroidism
Role
preferred
Name
Albright'S Hereditary Osteodystrophy
Role
preferred
Name
Pseudohypoparathyroidism Type 1B
Role
preferred
Name
Pseudohypoparathyroidism Type 1C
Role
preferred
Name
Pseudohypoparathyroidism, Type Ib
Role
preferred
Name
Pseudohypoparathyroidism, Type Ic
Role
preferred
Name
Pseudopseudohypoparathyroidism
Role
preferred
Name
Pseudohypoparathyroidism Type I B
Role
preferred
Name
Pseudohypoparathyroidism, Type Ia
Role
preferred
Name
ALBRIGHT HEREDITARY OSTEODYSTROPHY WITHOUT MULTIPLE HORMONE RESISTANCE
Role
alias
Name
PHP IB
Role
alias
Name
PHP IC
Role
alias
Name
PHP1B
Role
alias
Name
PHP1C
Role
alias
Name
PPHP
Role
alias
Name
Pseudohypoparathyroidism Type Ib
Role
alias
Name
Type Ib Pseudohypoparathyroidism
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000852
Herb
HBDIS002509HBDIS002513HBDIS006682HBDIS018075HBDIS020293HBDIS020396HBDIS020397HBDIS021479
Me Sh
D011547D011556
Omim
103580603233612462612463
Umls
C0033806C0033835C1864100C2931404C2932715C2932716C3494506
Icd10
E20.1
Sym Map
SMDE00351SMDE01145SMDE02103SMDE02508SMDE03115SMDE03460SMDE05675SMDE12519
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0033806C0033835C0271869C1864100C2931404C2932715C2932716C3494506
Orphanet
794437944494089
Umls Sty
T047
Hpo Class
HP:0000818
Me Sh Class
C05C16C18C19
Tcmbank Disease
126771424914969203920781272802937531637678
Itcmdb Generated
ITX-DISEASE-7B300A81DB3CITX-DISEASE-A655F53F0545
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
01
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Hpo Class Name
Abnormality of the endocrine system
Link Disease Id
351.0
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of the endocrine system
Umls Disease Type
Disease or Syndrome
Disease Definition
MSH2017_2016_08_12:A form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to hormones such as PARATHYROID HORMONE. It is associated with paternally inherited mutant alleles of the ALPHA CHAIN OF STIMULATORY G PROTEIN.NCI2016_02D:A condition characterized by the insensitivity of the tissues to respond to the activity of the parathyroid hormone. It results in increased levels of parathyroid hormone in the serum, hypocalcemia, and hyperphosphatemia.|MSH2017_2016_08_12: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.|JABL99:Originally reported as a hypocalcemic syndrome similar to hypoparathyroidism, but with renal and skeletal resistance to parathyroid hormone (PTH) and designated as "pseudohypoparathyroidism." Albright later defined a normocalcemic variant which he termed "pseudopseudohypoparathyroidism." Two separate forms of pseudohypoparathyroidism are recognized. Type I in which there is no increase in the urinary excretion of cyclic adenosine monophosphate (cAMP) and phosphate in response to parathyroid hormone (PTH). Type II in which there is a response to PTH, but without phosphate diuresis. The erythrocytes of some patients with type I contain a defective receptor-cyclase coupling protein (stimulatory guanine nucleoside-binding protein, or GS) which is responsible for coupling the cellular receptor that binds parathyroid hormone (PTH) and is involved with the formation and release of cyclic adenosine monophosphate (cAMP). This variant has been designated as "pseudohypoparathyroidism type Ia." The syndrome is associated with mental deficiency, dystrophic bone lesions, short stature, and other defects.|HPO2016_07_04:A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone. [HPO:probinson]|CSP2006:hereditary condition clinically resembling hypoparathyroidism, but caused by failure of response to rather than deficiency of parathyroid hormones; characterized by hypocalcemia and hyperphosphatemia, and commonly associated with short stature, obesity, short metacarpals, and ectopic calcification.NCI2016_02D:A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism.Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues whicPseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests wi
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
Umls Semantic Type Name
Disease or Syndrome