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Disease	Synonyms	Description
acromesomelic dysplasia, Grebe type	GREBE CHONDRODYSPLASIA	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. [-]
Albright's hereditary osteodystrophy	Albright hereditary osteodystrophy; pseudohypopara.. [+] Albright hereditary osteodystrophy; pseudohypoparathyroidism type 1a [-]	An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. [-]
achondrogenesis type IA	achondrogenesis Houston-Harris type	An achondrogenesis that results_in abnormal ossifi..[+] An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. [-]
achondrogenesis type IB	achondrogenesis Fraccaro type	An achondrogenesis that has_material_basis_in muta..[+] An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. [-]
achondrogenesis type II		An achondrogenesis that has_material_basis_in muta..[+] An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. [-]
autosomal recessive spinocerebellar ataxia 15		n_a
autosomal recessive spinocerebellar ataxia 14		n_a
autosomal recessive spinocerebellar ataxia 7		n_a
autosomal recessive spinocerebellar ataxia 12		n_a
autosomal recessive spinocerebellar ataxia 2		n_a
autosomal recessive spinocerebellar ataxia 13	SCAR13	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. [-]
autosomal recessive spinocerebellar ataxia 11		n_a
autosomal recessive spinocerebellar ataxia 17		n_a
autosomal recessive spinocerebellar ataxia 19		n_a
autosomal recessive spinocerebellar ataxia 20	SCAR20	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. [-]
adult acute monocytic leukemia		An acute monocytic leukemia occurring in adults.
adrenocorticotropic hormone deficiency		A hypopituitarrium that is characterized by a decr..[+] A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. [-]
adenoid cystic carcinoma		An adenocarcinoma that is characterized by bands o..[+] An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. [-]
amyotrophic lateral sclerosis type 23		An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. [-]
autosomal dominant intellectual developmental disorder 56	autosomal dominant mental retardation 56; autosoma.. [+] autosomal dominant mental retardation 56; autosomal dominant intellectual developmental disorder-56 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. [-]
autosomal dominant intellectual developmental disorder 55	autosomal dominant mental retardation 55; autosoma.. [+] autosomal dominant mental retardation 55; autosomal dominant intellectual developmental disorder-55 with seizures [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. [-]
autosomal dominant intellectual developmental disorder 51	autosomal dominant mental retardation 51	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13. [-]
autosomal dominant intellectual developmental disorder 45	autosomal dominant mental retardation 45	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13. [-]
autosomal recessive intellectual developmental disorder 61	autosomal recessive mental retardation 61; autosom.. [+] autosomal recessive mental retardation 61; autosomal recessive intellectual developmental disorder-61; Alwadei syndrome [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13. [-]
autosomal recessive congenital ichthyosis 13		An autosomal recessive congenital ichthyosis that ..[+] An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. [-]
autosomal recessive nonsyndromic deafness 106		An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15. [-]
autosomal recessive nonsyndromic deafness 108		An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31. [-]
autosomal dominant nonsyndromic deafness 72		An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21. [-]
autosomal dominant nonsyndromic deafness 34		An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. [-]
acquired generalized lipodystrophy	Lawrence syndrome	A complete generalized lipodystrophy that is charc..[+] A complete generalized lipodystrophy that is charcterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. [-]
aortic valve disease 1		A bicuspid aortic valve disease that has_material_..[+] A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34. [-]
autosomal recessive pyridoxine-refractory sideroblastic anemia 3		A sideroblastic anemia that is characterized by ho..[+] A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. [-]
Alzheimer's disease 1	Alzheimer's disease 1, early onset	An Alzheimer's disease that has_material_basis_in ..[+] An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. [-]
ankylosing spondylitis 1		A ankylosing spondylitis that has_material_basis_i..[+] A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3. [-]
anterior segment dysgenesis 3		An anterior segment dysgenesis that has_material_b..[+] An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. [-]
anterior segment dysgenesis 5		An anterior segment dysgenesis that has_material_b..[+] An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. [-]
alopecia-mental retardation syndrome 1		An alopecia-mental retardation syndrome that has_m..[+] An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. [-]
autoimmune cholangitis	autoimmune cholangiopathy	An autoimmune hepatitis that is characterized by p..[+] An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. [-]
autosomal dominant keratosis follicularis spinulosa decalvans		A keratosis follicularis spinulosa decalvans that ..[+] A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance. [-]
autosomal dominant beta thalassemia	inclusion body beta-thalassemia	A beta thalassemia that has_material_basis_in one ..[+] A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. [-]
anaplastic pleomorphic xanthoastrocytoma		A malignant astrocytoma that is characterized by t..[+] A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields. [-]
astrocytoma, IDH-mutant, grade 4		An IDH-mutant anaplastic astrocytoma that is chara..[+] An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. [-]
astroblastoma, MN1-altered	CNS high-grade neuroepithelial tumors with MN1 alt.. [+] CNS high-grade neuroepithelial tumors with MN1 alteration [-]	An astroblastoma that is characterized by astrobla..[+] An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. [-]
acquired angioedema		An angioedema that is characterized by an acquired..[+] An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation. [-]
agenesis of corpus callosum, cardiac, ocular, and genital syndrome		A syndrome that is characterized by global develop..[+] A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. [-]
alopecia-mental retardation syndrome 4		An alopecia-mental retardation syndrome that has_m..[+] An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. [-]
arthrogryposis multiplex congenita		A nervous system disease that is characterized by ..[+] A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. [-]
anauxetic dysplasia 2		A spondyloepimetaphyseal dysplasia that is has_mat..[+] A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. [-]
aortic valve disease 3		A bicuspid aortic valve disease that is characteri..[+] A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24. [-]
arthrogryposis multiplex congenita-5		An arthrogryposis multiplex congenita that has_mat..[+] An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. [-]

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