Xenbase

Search Diseases

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??? 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 ???pagination.result.next???

Disease	Synonyms	Description	Articles	Phenotypes
complement component 6 deficiency		A complement deficiency that is characterized by r..[+] A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. [-]
complement component 7 deficiency		A complement deficiency that is characterized by r..[+] A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene. [-]
complement component 9 deficiency		A complement deficiency that is characterized by r..[+] A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. [-]
cardiac arrest	circulatory arrest; cardiopulmonary arrest	A congestive heart failure characterized by a sudd..[+] A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. [-]	3 articles
cervical polyp		A cervix disease characterized by a benign polyp o..[+] A cervix disease characterized by a benign polyp on the surface of the cervical canal. [-]
CEDNIK syndrome	cerebral dysgenesis, neuropathy, ichthyosis and ke.. [+] cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome [-]	A syndrome that has_material_basis_in homozygous m..[+] A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. [-]
chronic atrial and intestinal dysrhythmia	CAID syndrome	A syndrome characterized by a unique combination o..[+] A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). [-]
ciliopathy		A genetic disease associated with mutations encodi..[+] A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. [-]	46 articles	74 matches
chylomicron retention disease	CMRD; Anderson disease	A lipid metabolism disorder characterized by malnu..[+] A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. [-]
Chilblain lupus		A cutaneous form of systemic lupus erythermatosus ..[+] A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene. [-]
chondrodysplasia Blomstrand type	Blomstrand lethal chondrodysplasia	n_a
chromosomal deletion syndrome		A chromosomal disease that has_material_basis_in p..[+] A chromosomal disease that has_material_basis_in partial deletion of chromosomes. [-]	18 articles	19 matches
chromosome 10q23 deletion syndrome		A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2. [-]
chromosome 13q14 deletion syndrome	deletion 13q14	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. [-]
chromosome 14q11-q22 deletion syndrome	14q11.2 microdeletion syndrome	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14. [-]
chromosome 15q11.2 deletion syndrome	15q11.2 microdeletion syndrome	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. [-]
chromosome 15q13.3 microdeletion syndrome	15q13.3 microdeletion syndrome	n_a
chromosome 15q24 deletion syndrome	15q24 microdeletion syndrome	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. [-]
chromosome 15q25 deletion syndrome		A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15. [-]
chromosome 15q26-qter deletion syndrome	15q26 deletion syndrome; distal 15q deletion syndr.. [+] 15q26 deletion syndrome; distal 15q deletion syndrome; telomeric 15q deletion syndrome; distal monosomy 15q; Drayer syndrome [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia. [-]	1 articles
chromosome 16p11.2 deletion syndrome, 220-kb	distal 16p11.2 microdeletion syndrome	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene. [-]
chromosome 16p12.1 deletion syndrome		A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects. [-]
chromosome 16p12.2-p11.2 deletion syndrome	16p11.2-p12.2 microdeletion syndrome; 16p11.2p12.2.. [+] 16p11.2-p12.2 microdeletion syndrome; 16p11.2p12.2 microdeletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. [-]
chromosome 16q22 deletion syndrome		A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. [-]
chromosome 17p13.1 deletion syndrome		A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. [-]
chromosome 17q11.2 deletion syndrome	17q11 microdeletion syndrome; Van Asperen syndrome.. [+] 17q11 microdeletion syndrome; Van Asperen syndrome; neurofibromatosis type 1 microdeletion syndrome; NF1 microdeletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. [-]
chromosome 17q12 deletion syndrome	17q12 microdeletion syndrome	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. [-]
chromosome 17q23.1-q23.2 deletion syndrome	17q23.1q23.2 microdeletion syndrome; 17q23.1-q23.2.. [+] 17q23.1q23.2 microdeletion syndrome; 17q23.1-q23.2 microdeletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. [-]
chromosome 18p deletion syndrome	De Grouchy syndrome; 18p- syndrome; monosomy 18p	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. [-]
chromosome 18q deletion syndrome	18q- syndrome; monosomy 18q; deletion 18q	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. [-]
chromosome 19q13.11 deletion syndrome	19q13.11 microdeletion syndrome; monosomy 19q13.11.. [+] 19q13.11 microdeletion syndrome; monosomy 19q13.11 [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. [-]
chromosome 1p36 deletion syndrome	1p36 deletion syndrome; monosomy 1p36; deletion 1p.. [+] 1p36 deletion syndrome; monosomy 1p36; deletion 1p36; subtelomeric 1p36 deletion [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. [-]
chromosome 1q21.1 deletion syndrome	1q21.1 microdeletion syndrome; monosomy 1q21.1	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. [-]
chromosome 1q41-q42 deletion syndrome	1q41-q42 microdeletion syndrome; 1q41q42 microdele.. [+] 1q41-q42 microdeletion syndrome; 1q41q42 microdeletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. [-]
chromosome 22q11.2 deletion syndrome, distal	distal 22q11.2 microdeletion syndrome; 22q11.2 del.. [+] distal 22q11.2 microdeletion syndrome; 22q11.2 deletion syndrome; DiGeorge syndrome and Velocardiofacial syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. [-]	1 articles
chromosome 2p12-p11.2 deletion syndrome		A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region. [-]
chromosome 2p16.1-p15 deletion syndrome	2p15-p16.1 microdeletion syndrome; 2p15p16.1 micro.. [+] 2p15-p16.1 microdeletion syndrome; 2p15p16.1 microdeletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. [-]
chromosome 2q31.2 deletion syndrome		A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region. [-]
chromosome 3q13.31 deletion syndrome	3q13 microdeletion syndrome; monosomy 3q13	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia. [-]
chromosome 3q29 microdeletion syndrome	3q subtelomere deletion syndrome; 3q29 microdeleti.. [+] 3q subtelomere deletion syndrome; 3q29 microdeletion syndrome; 3q29 recurrent deletion; 3qter deletion [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region. [-]
chromosome 4q21 deletion syndrome	4q21 microdeletion syndrome; monosomy 4q21	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region. [-]
chromosome 5q12 deletion syndrome		A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region. [-]
chromosome 6pter-p24 deletion syndrome	6p25 microdeletion syndrome; distal monosomy 6p; 6.. [+] 6p25 microdeletion syndrome; distal monosomy 6p; 6p subtelomeric deletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. [-]
chromosome 6q11-q14 deletion syndrome		A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate. [-]
chromosome 6q24-q25 deletion syndrome	6q25 microdeletion syndrome; monosomy 6q25	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region. [-]
chromosome 8q21.11 deletion syndrome	8q21.11 microdeletion syndrome	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features. [-]
chromosome 19p13.13 deletion syndrome		A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity. [-]
chromosome Xp21 deletion syndrome	complex glycerol kinase deficiency; monosomy Xp21; .. [+] complex glycerol kinase deficiency; monosomy Xp21; Xp21 microdeletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. [-]
chromosomal duplication syndrome		A chromosomal disease that has_material_basis_in e..[+] A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. [-]	8 articles
chromosome 16p11.2 duplication syndrome	proximal 16p11.2 microduplication syndrome; proxim.. [+] proximal 16p11.2 microduplication syndrome; proximal trisomy 16p11.2; proximal dup(16)(p11.2) [-]	A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. [-]

???pagination.result.page??? ???pagination.result.prev??? 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 ???pagination.result.next???