Disease browser and phenotype portal

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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: Pathological Conditions, Anatomical (D020763)
..Starting node ..Nails, Malformed (D009264)
Child Nodes:
........Alopecia universalis onychodystrophy vitiligo (C537056)
........Ameloonychohypohidrotic syndrome (C538245)
........Anonychia congenita (C536377)
........Anonychia onychodystrophy (C536378)
........Anonychia with Flexural Pigmentation (C566278)
........Anonychia, Total, with Microcephaly (C564606)
........Anonychia-Ectrodactyly (C566277)
........Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly (C536379)
........Basan syndrome (C537659)
........Brachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
........Cartwright Nelson Fryns syndrome (C535917)
........Curly hair-acral keratoderma-caries syndrome (C536220)
........Curly hair-ankyloblepharon-nail dysplasia syndrome (C538074)
........Deafness enamel hypoplasia nail defects (C535994)
........Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
........Dermoodontodysplasia (C565103)
........Digitorenocerebral Syndrome (C563052)
........Double Nail for Fifth Toe (C565090)
........Gorlin Bushkell Jensen syndrome (C537289)
........Hereditary koilonychia (C537260)
........Hypospadias-Mental Retardation Syndrome (C563067)
........MAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
........NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 (OMIM:614149)
........Oculotrichodysplasia (C564934)
........Onycholysis, Partial, with Scleronychia (C563503)
........Onychotrichodysplasia and neutropenia (C537752)
........Otoonychoperoneal Syndrome (C564912)
........Pili torti onychodysplasia (C537399)
........Pinheiro Freire-Maia Miranda syndrome (C537402)
........Propping Zerres syndrome (C538052)
........Santos Syndrome (C567819)
........Schinzel-Giedion syndrome (C536632)
........Steatocystoma multiplex with natal teeth (C537487)
........Teebi Kaurah syndrome (C536948)
........Temple-Baraitser Syndrome (C567516)
........Toenail Dystrophy, Isolated (C564384)
........Tonoki syndrome (C536967)
........Twenty-Nail Dystrophy (C562907)
........Ulna hypoplasia with mental retardation (C536934)
........Ulnar Hypoplasia with Mental Retardation (C564757)
........Witkop syndrome (C536736)
........Yellow Nail Syndrome (D056684) 1
........Zori Stalker Williams syndrome (C536728)
Sister Nodes:
..Accessory Atrioventricular Bundle (D058606)
..Agenesis of Corpus Callosum (D061085) 59
..Airway Remodeling (D056151)
..Alopecia (D000505) 61
..Atrial Remodeling (D064752)
..Atrophy (D001284) 18
..Blister (D001768) 3
..Calculi (D002137) 15
..Choristoma (D002828) 2
..Constriction, Pathologic (D003251) 9
..Cysts (D003560) 78
..Dilatation, Pathologic (D004108)
..Diverticulum (D004240) 7
..Facial Asymmetry (D005146) 8
..Fistula (D005402) 34
..Hernia (D006547) 73
..Hypertrophy (D006984) 62
..Leg Length Inequality (D007870)
..Leukoplakia (D007971) 2
..Nails, Malformed (D009264) 44
..Plaque, Amyloid (D058225) 1
..Plaque, Atherosclerotic (D058226)
..Polyps (D011127) 7
..Prolapse (D011391) 5
..Rupture, Spontaneous (D012422) 1
..Torsion Abnormality (D014102) 13
..Vascular Remodeling (D066253)
..Ventricular Remodeling (D020257)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7759
Name:	Nails, Malformed
Definition:	Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails.
Alternative IDs:
ParentIDs:	MESH:D020763
TreeNumbers:	C23.300.820
Synonyms:	Abnormalities, Nail \|Abnormality, Nail \|Abnormal Nail \|Abnormal Nails \|Malformed Nail \|Malformed Nails \|Nail, Abnormal \|Nail Abnormalities \|Nail Abnormality \|Nail, Malformed \|Nails, Abnormal \|Pachyonychia
Slim Mappings:	Pathology (anatomical condition)
Reference:	MedGen: D009264 MeSH: D009264 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants