Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Lung Diseases (D008171)
Parent Node: Lymphangiectasis (D008200)
..Starting node ..Lymphangiectasia, pulmonary, congenital (C537727)
Child Nodes:
Sister Nodes:
..Lymphangiectasia, pulmonary, congenital (C537727)
..Lymphangiectasis, Intestinal (D008201) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6581

Name:

Lymphangiectasia, pulmonary, congenital

Definition:

Alternative IDs:

OMIM:265300

ParentIDs:

MESH:D008171|MESH:D008200

TreeNumbers:

C08.381/C537727 |C15.604.360/C537727

Synonyms:

CPL |Lymphangiectasia pulmonary congenital |Lymphangiomatosis, pulmonary |Pulmonary cystic lymphangiectasis

Slim Mappings:

Lymphatic disease|Respiratory tract disease

Reference:

MedGen: C537727
MeSH: C537727
OMIM: 265300;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006533	Bronchodysplasia
3	HP:0010310	Chylothorax
4	HP:0012281	Chylous ascites
5	HP:0005280	Depressed nasal bridge
6	HP:0000282	Facial edema
7	HP:0012368	Flat face
8	HP:0000316	Hypertelorism
9	HP:0000272	Malar flattening
10	HP:0001530	Mild postnatal growth retardation
11	HP:0001790	Nonimmune hydrops fetalis
12	HP:0100540	Palpebral edema
13	HP:0000767	Pectus excavatum
14	HP:0010741	Pedal edema
15	HP:0002202	Pleural effusion
16	HP:0001561	Polyhydramnios
17	HP:0006521	Pulmonary lymphangiectasia
18	HP:0002205	Recurrent respiratory infections
19	HP:0003828	Variable expressivity
20	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants