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46 Result(s)

ORPHA:1133   (Disorder)   AREDYLD syndrome

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Synonym(s) : Acrorenal defect-ectodermal dysplasia-diabetes syndrome

ORPHA:1028   (Disorder)   Amelo-onycho-hypohidrotic syndrome

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Synonym(s) : Ameloonychohypohidrotic ectodermal dysplasia

ORPHA:1810   (Subtype of disorder)   Autosomal dominant hypohidrotic ectodermal dysplasia

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Synonym(s) : Autosomal dominant anhidrotic ectodermal dysplasia

ORPHA:248   (Subtype of disorder)   Autosomal recessive hypohidrotic ectodermal dysplasia

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Synonym(s) : Autosomal recessive anhidrotic ectodermal dysplasia

ORPHA:3474   (Disorder)   CHIME syndrome

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Synonym(s) : Neuroectodermal dysplasia, CHIME type

ORPHA:3253   (Disorder)   Cleft lip/palate-ectodermal dysplasia syndrome

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Synonym(s) : Syndactyly-ectodermal dysplasia-cleft/lip palate

ORPHA:1515   (Disorder)   Cranioectodermal dysplasia

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ORPHA:459061   (Disorder)   Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

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Keyword(s) : Craniofacial dysplasia-short stature-ectodermal anomalies-mental retardation syndrome

ORPHA:1896   (Disorder)   EEC syndrome

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Synonym(s) : Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

ORPHA:98609   (Group of disorders)   EEC syndrome and related disorders

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Synonym(s) : Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

Keyword(s) : Ectrodactyly-ectodermal dysplasia-cleft lip and palate, limb-mammary, and ADULT syndromes

ORPHA:1897   (Disorder)   EEM syndrome

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Synonym(s) : Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

ORPHA:79373   (Group of disorders)   Ectodermal dysplasia syndrome

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Synonym(s) : Ectodermal dysplasia

ORPHA:1812   (Disorder)   Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

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Keyword(s) : Ectodermal dysplasia-mental retardation-central nervous system malformation syndrome

ORPHA:1883   (Disorder)   Ectodermal dysplasia-sensorineural deafness syndrome

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Synonym(s) : Ectodermal dysplasia-sensorineural hearing loss syndrome

ORPHA:289   (Disorder)   Ellis Van Creveld syndrome

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Synonym(s) : Chondroectodermal dysplasia

ORPHA:1809   (Disorder)   Hidrotic ectodermal dysplasia, Halal type

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Keyword(s) : Ectodermal dysplasia with skin anomalies and mental retardation

ORPHA:238468   (Disorder)   Hypohidrotic ectodermal dysplasia

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Synonym(s) : Anhidrotic ectodermal dysplasia

ORPHA:98813   (Disorder)   Hypohidrotic ectodermal dysplasia with immunodeficiency

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Synonym(s) : Anhidrotic ectodermal dysplasia with immunodeficiency

ORPHA:140936   (Disorder)   Lelis syndrome

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Synonym(s) : Ectodermal dysplasia-acanthosis nigricans syndrome

ORPHA:1816   (Disorder)   Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

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Synonym(s) : Ectodermal dysplasia, Berlin type

ORPHA:589608   (Disorder)   Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies

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Synonym(s) : RHOA-related mosaic ectodermal dysplasia

ORPHA:423454   (Disorder)   Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

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Synonym(s) : Ectodermal dysplasia-short stature syndrome

ORPHA:3391   (Disorder)   Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

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Synonym(s) : Ectodermal dysplasia-adrenal cyst syndrome

ORPHA:300576   (Disorder)   Oligodontia-cancer predisposition syndrome

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Synonym(s) : Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome

ORPHA:2892   (Disorder)   Pilodental dysplasia-refractive errors syndrome

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Synonym(s) : Euhidrotic ectodermal dysplasia

ORPHA:69084   (Disorder)   Pure hair and nail ectodermal dysplasia

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Synonym(s) : Hair-nail ectodermal dysplasia

ORPHA:3022   (Disorder)   Rapp-Hodgkin syndrome

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Synonym(s) : Ectodermal dysplasia syndrome, Rapp-Hodgkin type

ORPHA:50944   (Disorder)   Schöpf-Schulz-Passarge syndrome

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Synonym(s) : Eccrine tumors-ectodermal dysplasia

ORPHA:181   (Subtype of disorder)   X-linked hypohidrotic ectodermal dysplasia

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Synonym(s) : X-linked anhidrotic ectodermal dysplasia