Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase

Search Diseases

 

???application.search.numResults???


Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z


???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 15 16 17 18 19 20 21 22 23 24 25 26 27 28 ???pagination.result.next???

Disease Synonyms Description Articles Phenotypes
autosomal dominant non-syndromic intellectual disability 10
MRD10; autosomal dominant mental retardation 10
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant non-syndromic intellectual disability 11
MRD11; autosomal dominant mental retardation 11
An autosomal dominant non-syndromic intellectual d..[+]
Coffin-Siris syndrome 1
MRD12; autosomal dominant mental retardation 12; C.. [+]
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant non-syndromic intellectual disability 13
MRD13; mental retardation, autosomal dominant 13, .. [+]
An autosomal dominant non-syndromic intellectual d..[+]
Coffin-Siris syndrome 2
MRD14; autosomal dominant mental retardation 14; C.. [+]
An autosomal dominant non-syndromic intellectual d..[+]
Coffin-Siris syndrome 3
MRD15; autosomal dominant mental retardation 15; C.. [+]
A Coffin-Siris syndrome that has_material_basis_in..[+]
Coffin-Siris syndrome 4
MRD16; autosomal dominant mental retardation 16; C.. [+]
An autosomal dominant non-syndromic intellectual d..[+]
Schuurs-Hoeijmakers Syndrome
MRD17; autosomal dominant mental retardation 17; S.. [+]
An autosomal dominant intellectual developmental d..[+]
autosomal dominant non-syndromic intellectual disability 18
MRD18; autosomal dominant mental retardation 18
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant non-syndromic intellectual disability 19
MRD19; autosomal dominant mental retardation 19
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant non-syndromic intellectual disability 21
MRD21; autosomal dominant mental retardation 21
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant intellectual developmental disorder 22
MRD22; autosomal dominant mental retardation 22; a.. [+]
An autosomal dominant intellectual developmental d..[+]
autosomal dominant non-syndromic intellectual disability 23
MRD23; autosomal dominant mental retardation 23
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant non-syndromic intellectual disability 24
MRD24; autosomal dominant mental retardation 24
An autosomal dominant non-syndromic intellectual d..[+]
Xia-Gibbs Syndrome
MRD25; autosomal dominant mental retardation 25
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant intellectual developmental disorder 26
MRD26; autosomal dominant mental retardation 26; a.. [+]
An autosomal dominant intellectual developmental d..[+]
autosomal dominant non-syndromic intellectual disability 27
MRD27; autosomal dominant mental retardation 27
An autosomal dominant non-syndromic intellectual d..[+]
Helsmoortel-Van Der Aa Syndrome
MRD28; autosomal dominant mental retardation 28; H.. [+]
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant intellectual developmental disorder 29
MRD29; autosomal dominant mental retardation 29; a.. [+]
An autosomal dominant intellectual developmental d..[+]
autosomal dominant intellectual developmental disorder 30
MRD30; autosomal dominant mental retardation 30; a.. [+]
An autosomal dominant intellectual developmental d..[+]
autosomal dominant non-syndromic intellectual disability 31
MRD31; autosomal dominant mental retardation 31
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant non-syndromic intellectual disability 32
MRD32; autosomal dominant mental retardation 32
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant non-syndromic intellectual disability 33
MRD33; autosomal dominant mental retardation 33
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant intellectual developmental disorder 34
MRD34; autosomal dominant mental retardation 34; a.. [+]
An autosomal dominant intellectual developmental d..[+]
autosomal dominant non-syndromic intellectual disability 35
MRD35; autosomal dominant mental retardation 35
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant non-syndromic intellectual disability 36
MRD36; autosomal dominant mental retardation 36
An autosomal dominant non-syndromic intellectual d..[+]
White-Sutton syndrome
MRD37; autosomal dominant mental retardation 37; W.. [+]
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant non-syndromic intellectual disability 38
MRD38; autosomal dominant mental retardation 38; P.. [+]
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant non-syndromic intellectual disability 39
MRD39; autosomal dominant mental retardation 39
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant non-syndromic intellectual disability 40
MRD40; autosomal dominant mental retardation 40
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant intellectual developmental disorder 41
MRD41; autosomal dominant mental retardation 41; a.. [+]
An autosomal dominant intellectual developmental d..[+]
autosomal dominant non-syndromic intellectual disability 42
MRD42; autosomal dominant mental retardation 42
An autosomal dominant non-syndromic intellectual d..[+]
autosomal dominant intellectual developmental disorder 43
MRD43; autosomal dominant mental retardation 43; a.. [+]
An autosomal dominant intellectual developmental d..[+]
autosomal dominant intellectual developmental disorder 44
MRD44; autosomal dominant mental retardation 44; a.. [+]
An autosomal dominant intellectual developmental d..[+]
Koolen-De Vries syndrome
microdeletion 17q21.31 syndrome; chromosome 17q21... [+]
An autosomal dominant non-syndromic intellectual d..[+]
spermatogenic failure 17
Male infertility due to oocyte activation failure; .. [+]
A spermatogenic failure that is characterized by a..[+]
progressive familial intrahepatic cholestasis 3
MDR3 deficiency; PFIC3; progressive familial intra.. [+]
A progressive familial intrahepatic cholestasis ch..[+]
Loeys-Dietz syndrome 2
Marfan syndrome type II; AAT3; familial throacic a.. [+]
A Loeys-Dietz syndrome that has_material_basis_in ..[+]
X-linked Emery-Dreifuss muscular dystrophy 6
myopathy, X-linked, with postural muscle atrophy; .. [+]
An Emery-Dreifuss muscular dystrophy that has_mate..[+]
congenital disorder of glycosylation type IIa
mental retardation, growth retardation, prominent .. [+]
A congenital disorder of glycosylation type II tha..[+]
primary autosomal recessive microcephaly 14
MCPH14
A primary autosomal recessive microcephaly that ha..[+]
primary autosomal recessive microcephaly 5
MCPH5
A primary autosomal recessive microcephaly that ha..[+]
primary autosomal recessive microcephaly 12
MCPH12
A primary autosomal recessive microcephaly that ha..[+]
primary autosomal recessive microcephaly 9
MCPH9
A primary autosomal recessive microcephaly that ha..[+]
primary autosomal recessive microcephaly
MCPH
A primary microcephaly characterized by microcepha..[+]
brachycephaly, trichomegaly, and developmental delay
MCINS; Macinnes syndrome; BTDD
A syndrome characterized by brachycephaly, trichom..[+]
syndromic X-linked intellectual disability Pilorge type
MRXSP
A syndromic X-linked intellectual disability chara..[+]
Jansen's metaphyseal chondrodysplasia
Murk Jansen Type Metaphyseal Chondrodysplasia; Jan.. [+]
A metaphyseal dysplasia that has_material_basis_in..[+]
inclusion-cell disease
mucolipidosis II; I-cell disease
n_a
pseudo-Hurler polydystrophy
mucolipidosis III
n_a

???pagination.result.page??? ???pagination.result.prev??? 15 16 17 18 19 20 21 22 23 24 25 26 27 28 ???pagination.result.next???