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: Pathologic Processes (D010335)
..Starting node ..Ochronosis (D009794)
Child Nodes:
........Alkaptonuric ochronosis (C531762)
........Ochronosis, hereditary (C537862)
Sister Nodes:
..Acantholysis (D000051) 1
..Arrhythmias, Cardiac (D001145) 112
..Ascites (D001201)
..Atrial Remodeling (D064752)
..Azotemia (D053099)
..Cardiotoxicity (D066126)
..Channelopathies (D053447) 1
..Chromosome Aberrations (D002869) 271
..Death (D003643) 27
..Dehydration (D003681)
..Delayed Graft Function (D051799)
..Disease (D004194) 1
..Disease Attributes (D020969) 171
..Dysbiosis (D064806)
..Emphysema (D004646) 6
..Extravasation of Diagnostic and Therapeutic Materials (D005119)
..Femoracetabular Impingement (D057925)
..Fibrosis (D005355) 16
..Genomic Instability (D042822) 5
..Gliosis (D005911) 1
..Granuloma (D006099) 17
..Granulomatosis, Orofacial (D051261)
..Growth Disorders (D006130) 191
..Hemolysis (D006461) 2
..Hemorrhage (D006470) 84
..Hyperammonemia (D022124) 3
..Hyperamylasemia (D034321)
..Hyperbilirubinemia (D006932) 13
..Hyperplasia (D006965) 4
..Hyperuricemia (D033461) 8
..Hypovolemia (D020896)
..Inflammation (D007249) 52
..Intraoperative Complications (D007431) 15
..Ischemia (D007511) 3
..Leukoaraiosis (D049292)
..Leukocytosis (D007964) 6
..Lithiasis (D020347)
..Malacoplakia (D008287) 1
..Menstruation Disturbances (D008599) 10
..Metaplasia (D008679) 4
..Muscle Weakness (D018908) 5
..Necrosis (D009336) 12
..Neointima (D058426)
..Neoplastic Processes (D009385) 18
..Nerve Degeneration (D009410) 7
..Ochronosis (D009794) 2
..Ossification, Heterotopic (D009999) 7
..Polydipsia (D059606) 1
..Postoperative Complications (D011183) 42
..Protein Aggregation, Pathological (D066263)
..Respiratory Aspiration (D053120) 1
..Retropneumoperitoneum (D012188)
..Sclerosis (D012598) 8
..Shock (D012769) 18
..Teratogenesis (D064793)
..Ulcer (D014456) 1
..Vascular Remodeling (D066253)
..Yang Deficiency (D016711)
..Yin Deficiency (D016710)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8165
Name:	Ochronosis
Definition:	The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES).
Alternative IDs:
ParentIDs:	MESH:D010335
TreeNumbers:	C23.550.744
Synonyms:	Ochronoses
Slim Mappings:	Pathology (process)
Reference:	MedGen: D009794 MeSH: D009794 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants