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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Cerebellar Diseases (D002526)
Parent Node: Intellectual Disability (D008607)
Parent Node: Pierre Robin Syndrome (D010855)
..Starting node ..Stevenson-Carey Syndrome (C567446)
Child Nodes:
Sister Nodes:
..Catel Manzke syndrome (C535347)
..Chitayat Meunier Hodgkinson syndrome (C535926)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Femoral facial syndrome (C537916)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Pierre Robin Sequence with Facial and Digital Anomalies (C564078)
..Pierre Robin sequence with pectus excavatum and rib and scapular anomalies (C535775)
..Pierre Robin syndrome with fetal chondrodysplasia (C535776)
..Radial defect Robin sequence (C536261)
..Richieri Costa Pereira syndrome (C535677)
..Robin sequence and oligodactyly (C535688)
..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
..Sanderson Fraser syndrome (C537232)
..Stevenson-Carey Syndrome (C567446)
..Stoll Alembik Dott syndrome (C537497)
..TARP syndrome (C536942)
..Thrombocytopenia Robin sequence (C536898)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10663

Name:

Stevenson-Carey Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D000015|MESH:D002526|MESH:D008607|MESH:D010855

TreeNumbers:

C05.500.460.606/C567446 |C05.660.207.540.460.606/C567446 |C07.320.440.606/C567446 |C07.650.500.460.606/C567446 |C10.228.140.252/C567446 |C10.597.606.643/C567446 |C16.131.077/C567446 |C16.131.621.207.540.460.606/C567446 |C16.131.850.500.460.606/C567446 |C23.888.59

Synonyms:

Slim Mappings:

Reference:

MedGen: C567446
MeSH: C567446
OMIM: 611961;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000463	Anteverted nares
3	HP:0001631	Atrial septal defect
4	HP:0000248	Brachycephaly
5	HP:0012385	Camptodactyly
6	HP:0007110	Central hypoventilation
7	HP:0001321	Cerebellar hypoplasia
8	HP:0000589	Coloboma
9	HP:0002019	Constipation
10	HP:0000494	Downslanted palpebral fissures
11	HP:0002714	Downturned corners of mouth
12	HP:0002280	Enlarged cisterna magna
13	HP:0002020	Gastroesophageal reflux
14	HP:0001263	Global developmental delay
15	HP:0001385	Hip dysplasia
16	HP:0002079	Hypoplasia of the corpus callosum
17	HP:0001249	Intellectual disability
18	HP:0009473	Joint contracture of the hand
19	HP:0011670	Left superior vena cava draining to coronary sinus
20	HP:0000369	Low-set ears
21	HP:0000568	Microphthalmia
22	HP:0000160	Narrow mouth
23	HP:0000201	Pierre-Robin sequence
24	HP:0000358	Posteriorly rotated ears
25	HP:0005274	Prominent nasal tip
26	HP:0000010	Recurrent urinary tract infections
27	HP:0002650	Scoliosis
28	HP:0001250	Seizure
29	HP:0000430	Underdeveloped nasal alae

Disease Causing ClinVar Variants