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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: Central Nervous System Diseases (D002493)
Parent Node: Endocrine System Diseases (D004700)
..Starting node ..Endocrine-Cerebroosteodysplasia (C567210)
Child Nodes:
Sister Nodes:
..ACTH Deficiency, Isolated (C562707)
..Adrenal Gland Diseases (D000307) 71
..Alopecia, Neurologic Defects, and Endocrinopathy Syndrome (C567425)
..Bone Diseases, Endocrine (D001849) 40
..Diabetes Mellitus (D003920) 106
..Dwarfism (D004392) 155
..Endocrine Gland Neoplasms (D004701) 89
..Endocrine-Cerebroosteodysplasia (C567210)
..Gonadal Disorders (D006058) 238
..Macrosomia Adiposa Congenita (C565425)
..Parathyroid Diseases (D010279) 30
..Pituitary Diseases (D010900) 60
..Polyendocrinopathies, Autoimmune (D016884) 4
..Proprotein Convertase 1 3 Deficiency (C563423)
..PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
..Retinohepatoendocrinologic Syndrome (C564839)
..Thyroid Diseases (D013959) 92
..Tuberculosis, Endocrine (D014383)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3759

Name:

Endocrine-Cerebroosteodysplasia

Definition:

Alternative IDs:

OMIM:612651

ParentIDs:

MESH:D002493|MESH:D004700

TreeNumbers:

C10.228/C567210 |C19/C567210

Synonyms:

ECO

Slim Mappings:

Endocrine system disease|Nervous system disease

Reference:

MedGen: C567210
MeSH: C567210
OMIM: 612651;

Genes: ICK;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000377	Abnormality of the pinna
3	HP:0000835	Adrenal hypoplasia
4	HP:0000062	Ambiguous genitalia
5	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
6	HP:0001552	Barrel-shaped chest
7	HP:0001156	Brachydactyly
8	HP:0000175	Cleft palate
9	HP:0000204	Cleft upper lip
10	HP:0000028	Cryptorchidism
11	HP:0000437	Depressed nasal tip
12	HP:0001360	Holoprosencephaly
13	HP:0000238	Hydrocephalus
14	HP:0000047	Hypospadias
15	HP:0000369	Low-set ears
16	HP:0000272	Malar flattening
17	HP:0000347	Micrognathia
18	HP:0002983	Micromelia
19	HP:0000054	Micropenis
20	HP:0030260	Microphallus
21	HP:0011800	Midface retrusion
22	HP:0010442	Polydactyly
23	HP:0100259	Postaxial polydactyly
24	HP:0001852	Sandal gap
25	HP:0000046	Scrotal hypoplasia
26	HP:0000914	Shield chest
27	HP:0001159	Syndactyly
28	HP:0009487	Ulnar deviation of the hand
29	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
30	HP:0002119	Ventriculomegaly
31	HP:0006610	Wide intermamillary distance
32	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_016513.4(ICK):c.815G>A (p.Arg272Gln)	22858	ICK	Pathogenic	118203918	RCV000000672;	N	MedGen:C2675227,OMIM:612651,ORPHA:199332	6	52880897	52880897	NM_016513.4:c.815G>A	NP_057597.2:p.Arg272Gln	NC_000006.11:g.52880897C>T	OMIM Allelic Variant:612325.0001	C2675227 612651 Endocrine-cerebroosteodysplasia