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: Cryptorchidism (D003456)
Parent Node: Deafness (D003638)
Parent Node: Intellectual Disability (D008607)
Parent Node: Limb Deformities, Congenital (D017880)
..Starting node ..Lynch Lee Murday syndrome (C537713)
Child Nodes:
Sister Nodes:
..Aase Smith syndrome (C535332)
..Abruzzo Erickson syndrome (C535559)
..Acromegaloid facial appearance syndrome (C535655)
..Acromicric dysplasia (C535662) 1
..Acropectoral syndrome (C535664)
..Acropectorovertebral Dysplasia, F-Form (C566319)
..Acrorenal syndrome recessive (C535666)
..Adams Oliver syndrome (C538225)
..Arachnodactyly (D054119) 10
..Arms, Malformation of (C566258)
..ATELOSTEOGENESIS, TYPE III (OMIM:108721)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..Bagatelle Cassidy syndrome (C537796)
..Brachydactyly (D059327) 54
..Brachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..Brachyolmia, recessive Hobaek type (C537099)
..Calabro syndrome (C537960)
..Camptobrachydactyly (C537967)
..Cartwright Nelson Fryns syndrome (C535917)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..Chondrodysplasia, acromesomelic, with genital anomalies (C537913)
..COCOON SYNDROME (OMIM:613630)
..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Craniomicromelic Syndrome (C566522)
..Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
..Ectrodactyly (C574275)
..Ectrodactyly-Polydactyly (C565601)
..Ectromelia (D004480) 22
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Fetal akinesia syndrome, X-linked (C537921)
..Foot Deformities, Congenital (D005532) 78
..Freire-Maia odontotrichomelic syndrome (C535637)
..Fryns syndrome (C538070)
..Genee-Wiedemann syndrome (C537680)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hand and foot deformity with flat facies (C535626)
..Hand Deformities, Congenital (D006228) 134
..Hanhart syndrome (C535629)
..Heart defects limb shortening (C535850)
..Hypochondroplasia (C562937)
..Hypoglossia-Hypodactylia (C566308)
..Ichthyosis tapered fingers midline groove up (C536272)
..Kaplan Plauchu Fitch syndrome (C536892)
..Kaufman oculocerebrofacial syndrome (C537013)
..Krause-Kivlin syndrome (C537617)
..Kuster syndrome (C538126)
..Laryngeal Atresia, Encephalocele, and Limb Deformities (C564620)
..Le Marec Bracq Picaud syndrome (C536997)
..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..Limb Deficiencies, Distal, with Micrognathia (C565437)
..Limb-mammary syndrome (C535903)
..Lower Extremity Deformities, Congenital (D038061) 89
..Lynch Lee Murday syndrome (C537713)
..Megalodactyly (C562546)
..Mental retardation spasticity ectrodactyly (C537446)
..Mesomelia-synostoses syndrome (C537348)
..Metaphyseal anadysplasia (C537351)
..Metaphyseal Anadysplasia 1 (C567545)
..Metaphyseal Anadysplasia 2 (C567771)
..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..Microphthalmia, Syndromic 6 (C566440)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Multiple Pterygium Syndrome, X-Linked (C564072)
..Nephrosis deafness urinary tract digital malformation (C536402)
..Neu Laxova syndrome (C536405)
..Nievergelt syndrome (C536120)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Palant cleft palate syndrome (C538102)
..Penttinen-Aula syndrome (C536653)
..Pointer syndrome (C536323)
..Polydactyly (D017689) 61
..Postaxial Oligodactyly, Tetramelic (C566767)
..Powell Chandra Saal syndrome (C538357)
..Propping Zerres syndrome (C538052)
..Proteus Syndrome (D016715) 1
..Radial Ray Deficiency, X-Linked (C564523)
..Rapadilino syndrome (C535288)
..Reardon Hall Slaney syndrome (C535294)
..Renal dysplasia - limb defects syndrome (C537754)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Robinow syndrome, autosomal recessive (C535863)
..Ruzicka Goerz Anton syndrome (C537192)
..Short Stature-Obesity Syndrome (C564821)
..Splenogonadal fusion limb defects micrognatia (C537318)
..Split hand foot deformity (C535777) 2
..Split hand foot deformity 1 (C567893)
..Split-Hand And Split-Foot With Hypodontia (C566665)
..Split-Hand Foot Malformation 2 (C564056) 1
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..Split-Hand/Foot Malformation 4 (C565344)
..Split-Hand/Foot Malformation 5 (C564674)
..Split-Hand/Foot Malformation 6 (C567616)
..Split-hand/foot malformation with long bone deficiency (C536425)
..Split-Hand/Foot Malformation With Long Bone Deficiency 2 (C565199)
..Split-Hand/Foot Malformation With Long Bone Deficiency 3 (C567245)
..Steinfeld Syndrome (C566655)
..Stern Lubinsky Durrie syndrome (C537488)
..Stratton-Parker Syndrome (C566105)
..Syndactyly (D013576) 69
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Tetramelic Monodactyly (C566066)
..Thanatophoric Dysplasia (D013796) 8
..Thoracic Dysplasia-Hydrocephalus Syndrome (C564774)
..Thoraco limb dysplasia Rivera type (C536516)
..Thoracomelic Dysplasia (C564773)
..Ulnar Hypoplasia with Mental Retardation (C564757)
..Upper Extremity Deformities, Congenital (D038062) 145
..VACTERL association (C536495)
..VACTERL association with hydrocephaly, X-linked (C536520)
..VACTERL hydrocephaly (C536521)
..Viljoen Kallis Voges syndrome (C536349)
..Weyers acrofacial dysostosis (C536695)
..Wright Dyck syndrome (C536749)
..Yunis Varon syndrome (C536719)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6639
Name:	Lynch Lee Murday syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D003456\|MESH:D003638\|MESH:D008607\|MESH:D017880
TreeNumbers:	C05.660.585/C537713 \|C09.218.458.341.186/C537713 \|C10.597.606.643/C537713 \|C10.597.751.418.341.186/C537713 \|C12.294.829.258/C537713 \|C12.706.258/C537713 \|C16.131.621.585/C537713 \|C16.131.939.258/C537713 \|C19.391.829.258/C537713 \|C23.888.592.604.646/C537713 \|C23.88
Synonyms:	Caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation
Slim Mappings:	Congenital abnormality\|Ear-nose-throat disease\|Endocrine system disease\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms\|Urogenital disease (male)
Reference:	MedGen: C537713 MeSH: C537713 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants