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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: Craniofacial Abnormalities (D019465)
Parent Node: Diseases (C)
Parent Node: Growth Disorders (D006130)
Parent Node: Pelviscapular dysplasia (C535550)
..Starting node ..COUSIN SYNDROME (OMIM:260660)
Child Nodes:
Sister Nodes:
..COUSIN SYNDROME (OMIM:260660)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2792

Name:

COUSIN SYNDROME

Definition:

Alternative IDs:

ParentIDs:

MESH:C535550|MESH:D006130|MESH:D019465

TreeNumbers:

C05.116.099.370/C535550/260660 |C05.660.207/260660 |C16.131.621.207/260660 |C23.550.393/260660

Synonyms:

CRANIOFACIAL DYSMORPHISM, HYPOPLASIA OF SCAPULA AND PELVIS, AND SHORT STATURE |PELVISCAPULAR DYSPLASIA

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Pathology (process)

Reference:

MedGen: 260660
MeSH: 260660
OMIM: 260660;

Genes: TBX15;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0004691	2-3 toe syndactyly
3	HP:0004692	4-5 toe syndactyly
4	HP:0001999	Abnormal facial shape
5	HP:0006077	Absent proximal finger flexion creases
6	HP:0009085	Alveolar ridge overgrowth
7	HP:0000061	Ambiguous genitalia, female
8	HP:0000033	Ambiguous genitalia, male
9	HP:0008488	Anterior rounding of vertebral bodies
10	HP:0001591	Bell-shaped thorax
11	HP:0000581	Blepharophimosis
12	HP:0012385	Camptodactyly
13	HP:0000175	Cleft palate
14	HP:0004209	Clinodactyly of the 5th finger
15	HP:0003083	Dislocated radial head
16	HP:0009937	Facial hirsutism
17	HP:0002990	Fibular aplasia
18	HP:0002324	Hydranencephaly
19	HP:0000238	Hydrocephalus
20	HP:0000126	Hydronephrosis
21	HP:0002866	Hypoplastic iliac wing
22	HP:0003175	Hypoplastic ischia
23	HP:0003173	Hypoplastic pubic bone
24	HP:0000882	Hypoplastic scapulae
25	HP:0009473	Joint contracture of the hand
26	HP:0000890	Long clavicles
27	HP:0003027	Mesomelia
28	HP:0000482	Microcornea
29	HP:0000171	Microglossia
30	HP:0000347	Micrognathia
31	HP:0000568	Microphthalmia
32	HP:0011266	Microtia, first degree
33	HP:0008472	Prominent protruding coccyx
34	HP:0008905	Rhizomelia
35	HP:0012745	Short palpebral fissure
36	HP:0001762	Talipes equinovarus
37	HP:0001770	Toe syndactyly
38	HP:0001239	Wrist flexion contracture

Disease Causing ClinVar Variants