Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Dwarfism (D004392)
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Eye Abnormalities (D005124)
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Hand Deformities, Congenital (D006228)
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Joint Diseases (D007592)
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Dwarfism stiff joint ocular abnormalities (C535724)

       Child Nodes:



 Sister Nodes: 
..expandAnkylosis (D000844) Child10
..expandArthralgia (D018771) Child1
..expandArthritis (D001168) Child57
..expandArthrogryposis (D001176) Child55
..expandArthropathy, Neurogenic (D001177) Child3
..expandBorrone Di Rocco Crovato syndrome (C536577)
..expandBrachydactylous dwarfism Mseleni type (C537086)
..expandBursitis (D002062) Child1
..expandCalcification of Joints and Arteries (C565891)
..expandChondromatosis, Synovial (D015838) Child1
..expandContracture (D003286) Child41
..expandCoracoclavicular Joint, Anomalous (C565161)
..expandCushing's symphalangism (C536223)
..expandDwarfism stiff joint ocular abnormalities (C535724)
..expandFemoracetabular Impingement (D057925)
..expandFlynn Aird syndrome (C537066)
..expandGEMSS syndrome (C537679)
..expandGrowth mental deficiency syndrome of Myhre (C537620)
..expandHallux Limitus (D020857)
..expandHallux Rigidus (D020859)
..expandHemarthrosis (D006395)
..expandHip Dysplasia, Beukes Type (C564185)
..expandHydrarthrosis (D006833)
..expandJoint Deformities, Acquired (D016916)
..expandJoint Instability (D007593) Child17
..expandJoint Loose Bodies (D007594)
..expandLaplane Fontaine Lagardere syndrome (C537869)
..expandLaryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy (C566379)
..expandLeri pleonosteosis (C537118)
..expandMetatarsalgia (D037061)
..expandMorillo-Cucci Passarge syndrome (C536983)
..expandNail-Patella Syndrome (D009261) Child1
..expandOsteoarthropathy, Primary Hypertrophic (D010004) Child2
..expandOsteoarthropathy, Secondary Hypertrophic (D010005)
..expandPatellofemoral Pain Syndrome (D046788)
..expandPfeiffer Palm Teller syndrome (C537889)
..expandShort stature and locking fingers (C537603)
..expandShoulder Impingement Syndrome (D019534)
..expandSynovitis (D013585) Child5
..expandTemporomandibular Joint Disorders (D013705) Child2
..expandThai Symphalangism Syndrome (C564303)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3495
Name:Dwarfism stiff joint ocular abnormalities
Definition:
Alternative IDs:
ParentIDs:MESH:D004392|MESH:D005124|MESH:D006228|MESH:D007592
TreeNumbers:C05.116.099.343/C535724 |C05.390.408/C535724 |C05.550/C535724 |C05.660.585.988.425/C535724 |C11.250/C535724 |C16.131.384/C535724 |C16.131.621.585.425/C535724 |C16.320.240/C535724 |C19.297/C535724
Synonyms:Dwarfism with Stiff Joints and Ocular Abnormalities |Moore Federman syndrome |Moore-Federman Syndrome
Slim Mappings:Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: C535724
MeSH: C535724
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants