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Ichthyosis (D007057)
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Intellectual Disability (D008607)
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Skin Abnormalities (D012868)
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Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)

       Child Nodes:



 Sister Nodes: 
..expandAcrodermatitis (D000169) Child1
..expandAnetoderma (D057088) Child2
..expandArthropathy, Erosive (C565273)
..expandBarber Say syndrome (C537908)
..expandBlepharophimosis syndrome type 1 (C536233)
..expandBlepharophimosis syndrome type 2 (C536234)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBlepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..expandBook Syndrome (C562993)
..expandCarney Complex (D056733) Child1
..expandCOCOON SYNDROME (OMIM:613630)
..expandComedones, Familial Dyskeratotic (C562838)
..expandCutis Gyrata Syndrome of Beare And Stevenson (C565129)
..expandDermal Ridges, Nelson Syndrome (C565110)
..expandDermal Ridges, Patternless (C565109)
..expandDermoodontodysplasia (C565103)
..expandDyskeratosis Congenita (D019871) Child3
..expandDyskeratosis, Hereditary Benign Intraepithelial (C562551)
..expandEctodermal Dysplasia (D004476) Child144
..expandEhlers-Danlos Syndrome (D004535) Child23
..expandEpidermolysis Bullosa (D004820) Child29
..expandEpithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..expandFamilial popliteal pterygium syndrome (C535891)
..expandHairy palms and soles (C535620)
..expandHemangiomatosis, Cutaneous, with Associated Features (C562438)
..expandHyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
..expandHypohidrosis aith Abnormal Palmar Dermal Ridges (C565481)
..expandIchthyosis (D007057) Child66
..expandIchthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..expandIncontinentia Pigmenti (D007184) Child2
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandMichelin tire baby syndrome (C537575)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandMultiple pterygium syndrome (C537377) Child1
..expandOculocerebrocutaneous syndrome (C538088)
..expandPoikiloderma with Neutropenia (C565820)
..expandPoikiloderma, Hereditary Sclerosing (C562824)
..expandPort-Wine Stain (D019339) Child4
..expandProlidase Deficiency (D056732)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandPterygium Colli, Isolated (C566741)
..expandRidges-off-the-end syndrome (C531754)
..expandRothmund-Thomson Syndrome (D011038) Child5
..expandSclerema Neonatorum (D012593)
..expandSkin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..expandSkin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..expandSkin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..expandSkin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..expandSkin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..expandSkin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..expandSkin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..expandSkin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..expandTight skin contracture syndrome, lethal (C536920)
..expandTrichothiodystrophy Syndromes (D054463) Child5
..expandUrban Schosser Spohn syndrome (C536476)
..expandVascular Hyalinosis (C564750)
..expandWinter Shortland Temple syndrome (C536735)
..expandXeroderma Pigmentosum (D014983) Child16
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5687
Name:Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
Definition:
Alternative IDs:
ParentIDs:MESH:D007057|MESH:D008607|MESH:D012868
TreeNumbers:C10.597.606.643/C563402 |C16.131.831.512/C563402 |C16.131.831/C563402 |C16.614.492/C563402 |C17.800.428.333/C563402 |C17.800.804.512/C563402 |C17.800.804/C563402 |C23.888.592.604.646/C563402 |F03.550.600/C563402
Synonyms:
Slim Mappings:Congenital abnormality|Infant-newborn disease|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: C563402
MeSH: C563402
OMIM: 601039;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007503Generalized ichthyosis
3 HP:0001249Intellectual disability
Disease Causing ClinVar Variants