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Ontology Browser
Term:
isolated anhidrosis with normal sweat glands (EFO:MONDO:0007118)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
absence of fingerprints-congenital milia syndrome 
acne +   
acrogeria 
acrokeratosis verruciformis 
adiposis dolorosa 
albinism-hearing loss syndrome 
alopecia, isolated +  
antecubital pterygium syndrome 
aplasia cutis congenita +  
autosomal dominant vibratory urticaria 
autosomal recessive cutis laxa type 2A +  
Becker nevus syndrome +  
blue rubber bleb nevus 
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 
cerebrotendinous xanthomatosis 
CHILD syndrome 
chorea-acanthocytosis 
chronic mucocutaneous candidiasis +  
CLOVES syndrome 
combined immunodeficiency with skin granulomas 
Cowden disease +  
cutaneous mastocytosis +   
Darier disease 
dermatitis herpetiformis, familial 
dermatosis papulosa nigra 
dermis tumor +   
dermochondrocorneal dystrophy 
DK1-congenital disorder of glycosylation 
dyschromatosis universalis hereditaria +  
ectodermal dysplasia syndrome +   
encephalocraniocutaneous lipomatosis 
epidermodysplasia verruciformis +  
familial acanthosis nigricans 
familial acne inversa +  
familial anetoderma 
familial angiolipomatosis 
familial chilblain lupus +  
familial cutaneous collagenoma 
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 
familial keratoacanthoma 
familial multiple fibrofolliculoma 
familial multiple lipomatosis 
familial multiple nevi flammei 
familial pityriasis rubra pilaris 
familial primary localized cutaneous amyloidosis +  
familial reactive perforating collagenosis 
fibrodysplasia ossificans progressiva 
FLOTCH syndrome 
generalized basaloid follicular hamartoma syndrome 
H syndrome 
Hailey-Hailey disease 
hemangioma of subcutaneous tissue  
hereditary angioedema +  
hereditary lipodystrophy +  
hereditary mucoepithelial dysplasia 
hereditary mucosal leukokeratosis +  
hereditary palmoplantar keratoderma +  
hereditary papulotranslucent acrokeratoderma 
hereditary photodermatosis +  
hereditary sclerosing poikiloderma with tendon and pulmonary involvement 
hyperkeratosis-hyperpigmentation syndrome 
hyperpigmentation with or without hypopigmentation, familial progressive +  
inflammatory poikiloderma with hair abnormalities and acral keratoses 
inherited epidermolysis bullosa +  
inherited ichthyosis +  
isolated anhidrosis with normal sweat glands 
Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.
isolated congenital adermatoglyphia 
isolated hyperchlorhidrosis 
juvenile hyaline fibromatosis 
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 
keratosis pilaris atrophicans +  
lamellar ichthyosis +  
large congenital melanocytic nevus 
Legius syndrome 
lichen planus, familial 
lichen sclerosus et atrophicus +  
linear atrophoderma of Moulin 
linear nevus sebaceous syndrome 
linear skin defects with multiple congenital anomalies 
Lipedema 
lipoid proteinosis 
Maffucci syndrome 
MEDNIK syndrome 
mixed dermis disorder +  
monilethrix 
multiple benign circumferential skin creases on limbs 1 
multiple symmetric lipomatosis 
necrobiosis lipoidica 
neonatal inflammatory skin and bowel disease +  
neurocutaneous melanocytosis 
nevus comedonicus syndrome 
nevus, epidermal +  
nodular fasciitis 
nodular nonsuppurative panniculitis 
oculocutaneous albinism +  
osteopathia striata-pigmentary dermopathy-white forelock syndrome 
PENS syndrome 
phakomatosis pigmentokeratotica 
piebaldism 
Pierpont syndrome 
Pilomatrixoma 
poikiloderma with neutropenia 
porokeratosis +  
primary cutaneous amyloidosis +  
primary cutis verticis gyrata +  
primary lipodystrophy 
progressive osseous heteroplasia 
psoriasis +   
reticulate pigment disorder +  
Roch-Leri mesosomatous lipomatosis 
scalp defects-postaxial polydactyly syndrome 
schwannomatosis +  
sebocystomatosis 
seborrhea-like dermatitis with psoriasiform elements 
seborrheic keratosis +   
segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 
severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 
Sneddon syndrome 
spinocerebellar ataxia type 34 
stiff skin syndrome 
Subcutaneous Panniculitis-Like T-Cell Lymphoma 
sweet syndrome 
syndromic oculocutaneous albinism +  
Tietz syndrome 
vasculitis, lymphocytic, nodular 
X-linked chondrodysplasia punctata 2 
X-linked reticulate pigmentary disorder 

Synonyms
Exact Synonyms: Dann-Epstein-Sohar syndrome ;   ITPR2 anhidrosis ;   anhidrosis caused by mutation in ITPR2
Related Synonyms: ANHD ;   isolated generalised anhidrosis with normal sweat glands ;   isolated generalized anhidrosis with normal sweat glands
Alternate IDs: MONDO:0007118
Xrefs: DOID:0060603 ;   GARD:17843 ;   MEDGEN:1800259 ;   MIM:106190 ;   ORDO:468666 ;   UMLS:C5568836
Definition Sources: MONDO:patterns/disease_series_by_gene

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