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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Hypoparathyroidism (D007011)
..Starting node ..Hypoparathyroidism, X-Linked (C562782)
Child Nodes:
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..Barakat syndrome (C537907)
..Dahlberg Borer Newcomer syndrome (C535769)
..Hypercalciuric Hypocalcemia, Familial (C562783)
..Hypoparathyroidism familial isolated (C537156)
..Hypoparathyroidism, Autosomal Recessive (C564148)
..Hypoparathyroidism, X-Linked (C562782)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Parathyroid Glands, Agenesis Of (C563238)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5596

Name:

Hypoparathyroidism, X-Linked

Definition:

Alternative IDs:

OMIM:307700

ParentIDs:

MESH:D007011|MESH:D040181

TreeNumbers:

C16.320.322/C562782 |C19.642.482/C562782

Synonyms:

HYPX |PARATHYROID GLANDS, AGENESIS OF

Slim Mappings:

Endocrine system disease|Genetic disease (inborn)

Reference:

MedGen: C562782
MeSH: C562782
OMIM: 307700;

Genes: HPT;

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0000464	Abnormality of the neck
3	HP:0008198	Congenital hypoparathyroidism
4	HP:0001250	Seizure
5	HP:0001281	Tetany

Disease Causing ClinVar Variants