Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
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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: Fetal Growth Retardation (D005317)
Parent Node: Joint Diseases (D007592)
..Starting node ..Short stature and locking fingers (C537603)
Child Nodes:
Sister Nodes:
..Ankylosis (D000844) 10
..Arthralgia (D018771) 1
..Arthritis (D001168) 57
..Arthrogryposis (D001176) 55
..Arthropathy, Neurogenic (D001177) 3
..Borrone Di Rocco Crovato syndrome (C536577)
..Brachydactylous dwarfism Mseleni type (C537086)
..Bursitis (D002062) 1
..Calcification of Joints and Arteries (C565891)
..Chondromatosis, Synovial (D015838) 1
..Contracture (D003286) 41
..Coracoclavicular Joint, Anomalous (C565161)
..Cushing's symphalangism (C536223)
..Dwarfism stiff joint ocular abnormalities (C535724)
..Femoracetabular Impingement (D057925)
..Flynn Aird syndrome (C537066)
..GEMSS syndrome (C537679)
..Growth mental deficiency syndrome of Myhre (C537620)
..Hallux Limitus (D020857)
..Hallux Rigidus (D020859)
..Hemarthrosis (D006395)
..Hip Dysplasia, Beukes Type (C564185)
..Hydrarthrosis (D006833)
..Joint Deformities, Acquired (D016916)
..Joint Instability (D007593) 17
..Joint Loose Bodies (D007594)
..Laplane Fontaine Lagardere syndrome (C537869)
..Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy (C566379)
..Leri pleonosteosis (C537118)
..Metatarsalgia (D037061)
..Morillo-Cucci Passarge syndrome (C536983)
..Nail-Patella Syndrome (D009261) 1
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteoarthropathy, Secondary Hypertrophic (D010005)
..Patellofemoral Pain Syndrome (D046788)
..Pfeiffer Palm Teller syndrome (C537889)
..Short stature and locking fingers (C537603)
..Shoulder Impingement Syndrome (D019534)
..Synovitis (D013585) 5
..Temporomandibular Joint Disorders (D013705) 2
..Thai Symphalangism Syndrome (C564303)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10199
Name:	Short stature and locking fingers
Definition:
Alternative IDs:
ParentIDs:	MESH:D005317\|MESH:D007592
TreeNumbers:	C05.550/C537603 \|C13.703.277.370/C537603 \|C16.300.390/C537603 \|C23.550.393.450/C537603
Synonyms:
Slim Mappings:	Fetal disease\|Musculoskeletal disease\|Pathology (process)\|Pregnancy complication
Reference:	MedGen: C537603 MeSH: C537603 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants