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: Cartilage Diseases (D002357)
Parent Node: Laryngeal Diseases (D007818)
Parent Node: Musculoskeletal Abnormalities (D009139)
..Starting node ..Laryngomalacia (D055092)
Child Nodes:
........Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia (C563920)
Sister Nodes:
..Absent patella (C535568)
..ACROPECTOROVERTEBRAL DYSPLASIA (OMIM:102510)
..Arthrogryposis (D001176) 55
..Campomelic Dysplasia (D055036) 6
..Cervical Rib Syndrome (D002573) 1
..Chondrodysplasia, Grebe type (C537915)
..Congenital absence of gluteal muscles (C535561)
..Congenital absence of the sternocleidomastoid muscle (C535977)
..Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
..Craniofacial Abnormalities (D019465) 685
..Funnel Chest (D005660) 4
..Gastroschisis (D020139) 1
..Hajdu-Cheney Syndrome (D031845) 1
..Hip Dislocation, Congenital (D006618) 12
..Klippel-Feil Syndrome (D007714) 5
..Larsen syndrome, recessive type (C537874)
..Laryngomalacia (D055092) 1
..Limb Deformities, Congenital (D017880) 495
..Pectus Carinatum (D066166)
..Pseudoarthrogryposis (C566753)
..Pterygium, Antecubital (C566738)
..Sacrococcygeal dysgenesis association (C537225)
..Sternal cleft (C537489)
..Synostosis (D013580) 150
..Tracheobronchomalacia (D055089) 4
..VACTERL Association With Hydrocephalus (C564751)
..Widow's Peak Syndrome (C564040)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6220

Name:

Laryngomalacia

Definition:

A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain.

Alternative IDs:

ParentIDs:

MESH:D002357|MESH:D007818|MESH:D009139

TreeNumbers:

C05.182.310 |C08.360.563 |C09.400.563 |C16.131.621.568 |C17.300.182.310

Synonyms:

Chondromalacia of Larynx |Laryngomalacias |Larynx Chondromalacia |Larynx Chondromalacias

Slim Mappings:

Congenital abnormality|Connective tissue disease|Ear-nose-throat disease|Musculoskeletal disease|Respiratory tract disease

Reference:

MedGen: D055092
MeSH: D055092
OMIM: 150280;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002778	Abnormal tracheal morphology
3	HP:0004886	Congenital laryngeal stridor
4	HP:0001601	Laryngomalacia
5	HP:0002098	Respiratory distress

Disease Causing ClinVar Variants