Disease browser and phenotype portal

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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

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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: Craniosynostoses (D003398)
Parent Node: Ectromelia (D004480)
Parent Node: Hypertelorism (D006972)
Parent Node: Polycystic Kidney, Autosomal Recessive (D017044)
..Starting node ..Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
Child Nodes:
Sister Nodes:
..Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..Polycystic kidneys, severe infantile with tuberous sclerosis (C536328)
..Renal dysplasia diffuse cystic (C537755)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9060

Name:

Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia

Definition:

Alternative IDs:

ParentIDs:

MESH:D000015|MESH:D003398|MESH:D004480|MESH:D006972|MESH:D017044

TreeNumbers:

C05.116.099.370.231.480/C564881 |C05.116.099.370.894.232/C564881 |C05.660.207.231.480/C564881 |C05.660.207.240/C564881 |C05.660.207.707.249/C564881 |C05.660.585.350/C564881 |C05.660.906.364/C564881 |C12.777.419.403.875.510/C564881 |C13.351.968.419.403.875.510/C5

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C564881
MeSH: C564881
OMIM: 263210;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0001627	Abnormal heart morphology
4	HP:0002101	Abnormal lung lobation
5	HP:0030680	Abnormality of cardiovascular system morphology
6	HP:0000248	Brachycephaly
7	HP:0000776	Congenital diaphragmatic hernia
8	HP:0000444	Convex nasal ridge
9	HP:0001371	Flexion contracture
10	HP:0000316	Hypertelorism
11	HP:0002265	Large fleshy ears
12	HP:0000369	Low-set ears
13	HP:0000252	Microcephaly
14	HP:0000347	Micrognathia
15	HP:0001405	Periportal fibrosis
16	HP:0000113	Polycystic kidney dysplasia
17	HP:0000358	Posteriorly rotated ears
18	HP:0002089	Pulmonary hypoplasia
19	HP:0000278	Retrognathia
20	HP:0003026	Short long bone
21	HP:0000470	Short neck
22	HP:0002652	Skeletal dysplasia
23	HP:0000319	Smooth philtrum
24	HP:0000506	Telecanthus
25	HP:0009487	Ulnar deviation of the hand
26	HP:0000430	Underdeveloped nasal alae

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_024740.2(ALG9):c.1173+2T>A	79796	ALG9	Pathogenic	786205134	RCV000170339; RCV000211586;	N	MedGen:C1849762,OMIM:263210; MedGen:CN225190	11	111711376	111711376	NM_024740.2:c.1173+2T>A		NC_000011.9:g.111711376A>T	OMIM Allelic Variant:606941.0003	CN225190 Gillessen-Kaesbach-Nishimura dysplasia; C1849762 263210 Gillessen-kaesbach-nishimura syndrome