Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Lung Diseases, Interstitial (D017563)
..Starting node ..Interstitial Pneumonitis, Desquamative, Familial (C562470)
Child Nodes:
Sister Nodes:
..Alveolitis, Extrinsic Allergic (D000542) 5
..Anti-Glomerular Basement Membrane Disease (D019867)
..Granulomatosis with Polyangiitis (D014890) 2
..Histiocytosis, Langerhans-Cell (D006646) 3
..Idiopathic Interstitial Pneumonias (D054988) 2
..Interstitial Pneumonitis, Desquamative, Familial (C562470)
..Lymphoid Interstitial Pneumonia (C562489)
..Pneumoconiosis (D011009) 13
..Radiation Pneumonitis (D017564)
..Sarcoidosis, Pulmonary (D017565)
..Surfactant Dysfunction (C580477)
..Surfactant Metabolism Dysfunction, Pulmonary, 1 (C566882)
..Surfactant Metabolism Dysfunction, Pulmonary, 2 (C567048)
..Surfactant Metabolism Dysfunction, Pulmonary, 3 (C567046)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5848

Name:

Interstitial Pneumonitis, Desquamative, Familial

Definition:

Alternative IDs:

OMIM:263000

ParentIDs:

MESH:D017563|MESH:D030342

TreeNumbers:

C08.381.483/C562470 |C16.320/C562470

Synonyms:

DIP |ILD, DESQUAMATIVE |Interstitial Lung Disease, Desquamative |Pneumonia, Desquamative Interstitial, Familial |Pneumonitis, Desquamative Interstitial, Familial

Slim Mappings:

Genetic disease (inborn)|Respiratory tract disease

Reference:

MedGen: C562470
MeSH: C562470
OMIM: 263000;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001939	Abnormality of metabolism/homeostasis
4	HP:0001648	Cor pulmonale
5	HP:0012735	Cough
6	HP:0000961	Cyanosis
7	HP:0005942	Desquamative interstitial pneumonitis
8	HP:0001508	Failure to thrive
9	HP:0006515	Interstitial pneumonitis
10	HP:0002788	Recurrent upper respiratory tract infections
11	HP:0002098	Respiratory distress
12	HP:0002878	Respiratory failure
13	HP:0002789	Tachypnea
14	HP:0005576	Tubulointerstitial fibrosis

Disease Causing ClinVar Variants