Disease browser and phenotype portal

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MSeqDR-LSDB
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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

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: Craniofacial Abnormalities (D019465)
Parent Node: Ovarian Cysts (D010048)
Parent Node: Respiratory System Abnormalities (D015619)
..Starting node ..Fraser-Like Syndrome (C565562)
Child Nodes:
Sister Nodes:
..Bronchogenic Cyst (D001994)
..Bronchopulmonary Sequestration (D001998)
..Choanal Atresia (D002754) 8
..Cystic Adenomatoid Malformation of Lung, Congenital (D015615)
..Fraser-Like Syndrome (C565562)
..Kartagener Syndrome (D007619) 6
..Laryngocele (D059608)
..Laryngostenosis (D007829)
..Oculoauriculofrontonasal syndrome (C537865)
..Scimitar Syndrome (D012587) 1
..Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs (C567517)
..Tracheobronchomegaly (D014137)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4408

Name:

Fraser-Like Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D010048|MESH:D015619|MESH:D019465

TreeNumbers:

C04.182.612/C565562 |C05.660.207/C565562 |C08.695/C565562 |C13.351.500.056.630.580/C565562 |C16.131.621.207/C565562 |C16.131.740/C565562 |C19.391.630.580/C565562

Synonyms:

Fused Eyelids, Airway Anomalies, Ovarian Cysts, and Digital Anomalies

Slim Mappings:

Reference:

MedGen: C565562
MeSH: C565562
OMIM: 229230;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger
3	HP:0000138	Ovarian cyst
4	HP:0001845	Overlapping toe
5	HP:0001607	Subglottic stenosis

Disease Causing ClinVar Variants