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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: Hamartoma (D006222)
Parent Node: Hypothalamic Diseases (D007027)
..Starting node ..Hypothalamic hamartomas (C537158)
Child Nodes:
Sister Nodes:
..Bardet-Biedl Syndrome (D020788) 13
..Hypothalamic hamartomas (C537158)
..Hypothalamic Neoplasms (D007029) 7
..Laurence-Moon Syndrome (D007849)
..Microgastria limb reduction defect (C537554)
..Pituitary Diseases (D010900) 60
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5632

Name:

Hypothalamic hamartomas

Definition:

Alternative IDs:

OMIM:241800

ParentIDs:

MESH:D006222|MESH:D007027

TreeNumbers:

C04.445/C537158 |C10.228.140.617/C537158

Synonyms:

CHHS, INCLUDED |Congenital hypothalamic hamartoma syndrome |CONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED |Hamartoma of the hypothalamus

Slim Mappings:

Cancer|Nervous system disease

Reference:

MedGen: C537158
MeSH: C537158
OMIM: 241800;

Genes: GLI3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001627	Abnormal heart morphology
3	HP:0030680	Abnormality of cardiovascular system morphology
4	HP:0000830	Anterior hypopituitarism
5	HP:0000175	Cleft palate
6	HP:0001522	Death in infancy	HP:0040282
7	HP:0005280	Depressed nasal bridge
8	HP:0009733	Glioma
9	HP:0002827	Hip dislocation
10	HP:0000238	Hydrocephalus
11	HP:0002444	Hypothalamic hamartoma
12	HP:0000256	Macrocephaly
13	HP:0000161	Median cleft lip
14	HP:0000171	Microglossia
15	HP:0000347	Micrognathia
16	HP:0002983	Micromelia
17	HP:0000054	Micropenis
18	HP:0002085	Occipital encephalocele
19	HP:0001162	Postaxial hand polydactyly
20	HP:0002089	Pulmonary hypoplasia
21	HP:0000110	Renal dysplasia
22	HP:0003196	Short nose
23	HP:0000773	Short ribs
24	HP:0002652	Skeletal dysplasia

Disease Causing ClinVar Variants