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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: Growth Disorders (D006130)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Hypertension, Pulmonary (D006976)
..Starting node ..Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
Child Nodes:
Sister Nodes:
..Cirrhosis, Familial, with Pulmonary Hypertension (C562580)
..Dursun Syndrome (C567804)
..Familial Primary Pulmonary Hypertension (D065627)
..Hemangiomatosis, familial pulmonary capillary (C535861)
..Persistent Fetal Circulation Syndrome (D010547) 1
..Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related (C563358)
..Pulmonary edema of mountaineers (C535833)
..PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO (OMIM:612862)
..Pulmonary Hypertension, Primary, Autosomal Recessive (C564862)
..Rowley-Rosenberg syndrome (C535874)
..Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11548

Name:

Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency

Definition:

Alternative IDs:

ParentIDs:

MESH:D006130|MESH:D006330|MESH:D006976

TreeNumbers:

C08.381.423/C564244 |C14.240.400/C564244 |C14.280.400/C564244 |C16.131.240.400/C564244 |C23.550.393/C564244

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Pathology (process)|Respiratory tract disease

Reference:

MedGen: C564244
MeSH: C564244
OMIM: 608406;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001595	Abnormal hair morphology
3	HP:0001600	Abnormality of the larynx
4	HP:0001631	Atrial septal defect
5	HP:0000592	Blue sclerae
6	HP:0000286	Epicanthus
7	HP:0002937	Hemivertebrae
8	HP:0000316	Hypertelorism
9	HP:0001511	Intrauterine growth retardation
10	HP:0005950	Laryngeal web
11	HP:0001643	Patent ductus arteriosus
12	HP:0000767	Pectus excavatum
13	HP:0000913	Posterior rib fusion
14	HP:0000358	Posteriorly rotated ears
15	HP:0001177	Preaxial hand polydactyly
16	HP:0002092	Pulmonary arterial hypertension
17	HP:0004322	Short stature
18	HP:0000122	Unilateral renal agenesis
19	HP:0001629	Ventricular septal defect

Disease Causing ClinVar Variants