Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Malformations of Cortical Development, Group I (D065703)
..Starting node ..Microcephaly (D008831)
Child Nodes:
........Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
........Achalasia microcephaly (C536010)
........Agammaglobulinemia, microcephaly, and severe dermatitis (C538055)
........Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
........Amish lethal microcephaly (C538247)
........Anonychia, Total, with Microcephaly (C564606)
........Aphalangia syndactyly microcephaly (C537787)
........Ataxia-Microcephaly-Cataract Syndrome (C563086)
........Autosomal Recessive Primary Microcephaly (C579935)
........Baetz-Greenwalt syndrome (C537795)
........BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
........Baraitser Brett Piesowicz syndrome (C537905)
........Battaglia Neri syndrome (C537662)
........BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
........Bixler Christian Gorlin syndrome (C537632)
........Boudhina Yedes Khiari syndrome (C537939)
........Brachydactyly, Type A2, With Microcephaly (C565894)
........Branchial arch syndrome X-linked (C537102)
........Bullous Dystrophy, Hereditary Macular Type (C563065)
........CAMFAK syndrome (C537965)
........Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
........Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
........Chromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
........Chromosome 15q26-Qter Deletion Syndrome (C567232)
........CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
........CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
........CK SYNDROME (OMIM:300831)
........Cohen syndrome (C536438)
........Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
........Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
........Dubowitz syndrome (C535718)
........Ellis Yale Winter syndrome (C536205)
........Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
........Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
........Filippi syndrome (C538152)
........FORSYTHE-WAKELING SYNDROME (OMIM:613606)
........Galloway Mowat syndrome (C537548)
........GOMBO syndrome (C537284)
........Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
........Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
........Hadziselimovic Syndrome (C567850)
........Halal syndrome (C535622)
........Hersh Podruch Weisskopk syndrome (C538114)
........Hoyeraal Hreidarsson syndrome (C536068)
........Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
........Hypospadias-Mental Retardation Syndrome (C563067)
........Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
........Jorgenson Lenz syndrome (C536292)
........Kaufman oculocerebrofacial syndrome (C537013)
........Lambotte syndrome (C537549)
........Lissencephaly 3 (C566908)
........Lowry Wood syndrome (C537038)
........Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
........MacDermot Winter syndrome (C537714)
........Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
........MEHMO syndrome (C537451)
........Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
........Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
........Mental Retardation, X-Linked, Syndromic 9 (C567474)
........Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
........Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
........Microcephalic osteodysplastic primordial dwarfism, type 3 (C537320)
........Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
........Microcephalic primordial dwarfism Toriello type (C537321)
........Microcephaly albinism digital anomalies syndrome (C537322)
........Microcephaly autosomal dominant (C537323)
........Microcephaly cervical spine fusion anomalies (C537325)
........Microcephaly deafness syndrome (C537326)
........Microcephaly microphthalmos blindness (C537541)
........Microcephaly nonsyndromal (C537542)
........Microcephaly pontocerebellar hypoplasia dyskinesia (C537543)
........Microcephaly seizures genital hypoplasia (C537540)
........Microcephaly seizures mental retardation heart disorders (C537544)
........Microcephaly sparse hair mental retardation seizures (C537545)
........Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
........Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
........Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
........Microcephaly with Mental Retardation and Digital Anomalies (C567101)
........Microcephaly with Simplified Gyral Pattern (C566332)
........Microcephaly with spastic quadriplegia (C537546)
........Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
........Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
........Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
........Microcephaly, Macrotia, And Mental Retardation (C566525)
........Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
........MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
........Microcephaly, Primary Autosomal Recessive, 1 (C565384)
........Microcephaly, Primary Autosomal Recessive, 2 (C565794)
........Microcephaly, Primary Autosomal Recessive, 3 (C565746)
........Microcephaly, Primary Autosomal Recessive, 4 (C565792)
........Microcephaly, Primary Autosomal Recessive, 5 (C563871)
........Microcephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern (C567221)
........Microcephaly, Primary Autosomal Recessive, 6 (C564247)
........Microcephaly, Primary Autosomal Recessive, 7 (C567198)
........Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
........MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
........Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
........Microcephaly-Micromelia Syndrome (C565382)
........Microhydranencephaly (C537555)
........Microphthalmia and mental deficiency (C537462)
........Milner Khallouf Gibson syndrome (C537473)
........Mirhosseini-Holmes-Walton syndrome (C538367)
........Mowat-Wilson syndrome (C536990)
........Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
........Neu Laxova syndrome (C536405)
........Nijmegen Breakage Syndrome-Like Disorder (C567767)
........Oculodigitoesophagoduodenal syndrome (C537734)
........Oculopalatocerebral Syndrome (C564935)
........Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
........Paine syndrome (C538101)
........Partington Anderson syndrome (C536299)
........Phosphoglycerate Dehydrogenase Deficiency (C566618)
........Phosphoserine Aminotransferase Deficiency (C567032)
........PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
........Porencephaly (D065708) 1
........Raine syndrome (C535282)
........RAJAB SYNDROME (OMIM:613658)
........Sammartino De Crecchio Syndrome (C537229)
........Say Barber Miller syndrome (C536618)
........Say syndrome (C536621)
........Schimke X-linked mental retardation syndrome (C536630)
........Seckel syndrome 1 (C537533)
........Seckel syndrome 2 (C537534)
........Seckel Syndrome 3 (C563881)
........SECKEL SYNDROME 4 (OMIM:613676)
........Secretory Diarrhea, Myopathy, and Deafness (C564382)
........Seemanova Lesny syndrome (C537536)
........Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
........Silengo Lerone Pelizza syndrome (C537336)
........Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
........Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
........Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
........Teebi Kaurah syndrome (C536948)
........Trichodental syndrome (C536551)
........Tsukahara Syndrome (C566376)
........Warburg Sjo Fledelius syndrome (C536681)
........Warburton Anyane Yeboa syndrome (C536682)
........Winship Viljoen Leary syndrome (C536711)
........Zerres Rietschel Majewski syndrome (C536724)
Sister Nodes:
..Cerebellar Granule Cell Hypertrophy and Megalencephaly (C563565)
..Focal cortical dysplasia of Taylor (C537067)
..Megalencephaly (D058627) 23
..Microcephaly (D008831) 140
..Tuberous Sclerosis (D014402) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7169
Name:	Microcephaly
Definition:	A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Alternative IDs:
ParentIDs:	MESH:D019465\|MESH:D065703
TreeNumbers:	C05.660.207.620 \|C10.500.507.400.500 \|C16.131.621.207.620 \|C16.131.666.507.400.500
Synonyms:	Congenital Microcephalies, Severe \|Congenital Microcephaly, Severe \|Microcephalies \|Microcephalies, Severe Congenital \|Microcephaly, Severe Congenital \|Microlissencephalies \|Microlissencephaly \|Severe Congenital Microcephalies \|Severe Congenital Microcephaly
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: D008831 MeSH: D008831 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants