Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expand
Anodontia (D000848)
Parent Node:
expand
Growth Disorders (D006130)
Parent Node:
expand
Hypotrichosis (D007039)
Parent Node:
expand
Intellectual Disability (D008607)
Parent Node:
expand
Pigmentation Disorders (D010859)
Parent Node:
expand
Skin Diseases, Genetic (D012873)
..Starting node
..expand
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)

       Child Nodes:



 Sister Nodes: 
..expandActinic Prurigo (C566780)
..expandAlbinism (D000417) Child30
..expandAmyloidosis IX (C562643)
..expandAmyloidosis, Cutaneous Bullous (C562644)
..expandAmyloidosis, Primary Cutaneous (C562642)
..expandAnnular Erythema (C562461)
..expandArterial Tortuosity Syndrome (C565942)
..expandAtrophia Maculosa Varioliformis Cutis, Familial (C563349)
..expandBasaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..expandBuschke-Ollendorff syndrome (C537415)
..expandCollagenosis, Familial Reactive Perforating (C565687)
..expandCutis Laxa (D003483) Child17
..expandDarier Disease (D007644) Child7
..expandDermatitis, Atopic (D003876) Child9
..expanddowling-degos disease (C562924)
..expandDyschromatosis universalis hereditaria (C535730)
..expandDyschromatosis Universalis Hereditaria 1 (C567273)
..expandDyschromatosis Universalis Hereditaria 2 (C567194)
..expandDyskeratosis Congenita (D019871) Child3
..expandEctodermal Dysplasia (D004476) Child144
..expandEhlers-Danlos Syndrome (D004535) Child23
..expandEpidermolysis Bullosa (D004820) Child29
..expandErythrokeratodermia Variabilis (D056266) Child3
..expandErythrokeratodermia with ataxia (C535738)
..expandExfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..expandFingerprints, Absence of (C565010)
..expandFollicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..expandGerodermia osteodysplastica (C537799)
..expandHereditary Autoinflammatory Diseases (D056660) Child10
..expandHistiocytic Dermatoarthritis (C564183)
..expandHyalinosis, Systemic (D057770)
..expandHyaluronan Metabolism, Defect in (C565742)
..expandIchthyosiform Erythroderma, Congenital (D016113) Child18
..expandIchthyosis Bullosa of Siemens (D053560)
..expandIchthyosis Vulgaris (D016112) Child1
..expandIchthyosis, X-Linked (D016114) Child2
..expandIncontinentia Pigmenti (D007184) Child2
..expandJuvenile Spring Eruption of Ears (C566781)
..expandKeratoderma, Palmoplantar (D007645) Child45
..expandKeratolytic winter erythema (C536155)
..expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandLeukokeratosis, Hereditary Mucosal (D053529)
..expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..expandLipoid Proteinosis of Urbach and Wiethe (D008065)
..expandMonilethrix (D056734) Child1
..expandMuir-Torre Syndrome (D055653)
..expandNetherton Syndrome (D056770)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOculotrichodysplasia (C564934)
..expandOnychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..expandOrofaciodigital syndrome 9 (C557818)
..expandOsseous Heteroplasia, Progressive (C562735)
..expandOsteopoikilosis, Isolated (C563484)
..expandParana Hard Skin Syndrome (C564905)
..expandPeeling Skin Syndrome (C564818)
..expandPemphigus, Benign Familial (D016506)
..expandPerifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPlasminogen Deficiency, Type I (C566897)
..expandPoikiloderma, Hereditary Sclerosing (C562824)
..expandPorokeratosis (D017499) Child7
..expandPorphyria, Erythropoietic (D017092)
..expandPorphyrias, Hepatic (D017094) Child14
..expandProlidase Deficiency (D056732)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandRothmund-Thomson Syndrome (D011038) Child5
..expandSjogren-Larsson Syndrome (D016111) Child1
..expandSkin Fragility-Woolly Hair Syndrome (C564359)
..expandStiff Skin Syndrome (C566112)
..expandStorm Syndrome (C566109)
..expandTrichothiodystrophy Syndromes (D054463) Child5
..expandVitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..expandVohwinkel Syndrome, Variant Form (C565826)
..expandXeroderma Pigmentosum (D014983) Child16
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6401
Name:Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Definition:
Alternative IDs:
ParentIDs:MESH:D000848|MESH:D006130|MESH:D007039|MESH:D008607|MESH:D010859|MESH:D012873
TreeNumbers:C07.650.800.100/C565440 |C07.793.700.100/C565440 |C10.597.606.643/C565440 |C16.131.850.800.100/C565440 |C16.320.850/C565440 |C17.800.329.937/C565440 |C17.800.621/C565440 |C17.800.827/C565440 |C23.550.393/C565440 |C23.888.592.604.646/C565440 |F03.550.600/C565440
Synonyms:
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Mental disorder|Mouth disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease
Reference: MedGen: C565440
MeSH: C565440
OMIM: 246500;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001510Growth delay
3 HP:0000668Hypodontia
4 HP:0001249Intellectual disability
5 HP:0001006obsolete Hypotrichosis
Disease Causing ClinVar Variants