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Bones, muscles, and connective tissues
Connective tissue is a broad term for supportive tissues that provide the body’s framework. Connective tissues include bones, muscles, cartilage, and tendons. There are a number of disorders that are caused by defects in genes important for the formation and function of connective tissue.
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Aarskog-Scott syndrome
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Aarskog syndrome see Aarskog-Scott syndrome
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AAS see Aarskog-Scott syndrome
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ACADS deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
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acanthocytosis with neurologic disorder see chorea-acanthocytosis
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ACH see achondroplasia
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achondrogenesis
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achondroplasia
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Acid ceramidase deficiency see Farber lipogranulomatosis
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Acid Maltase Deficiency Disease see Pompe disease
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Acral dysostosis with facial and genital abnormalities see Robinow syndrome
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Acrocephalosyndactyly (Apert) see Apert syndrome
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acrocephalosyndactyly III see Saethre-Chotzen syndrome
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Acrocephalosyndactyly, type III see Saethre-Chotzen syndrome
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acrocephalosyndactyly, type V see Pfeiffer syndrome
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Acrocephaly, Skull Asymmetry, and Mild Syndactyly see Saethre-Chotzen syndrome
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ACS III see Saethre-Chotzen syndrome
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ACS V see Pfeiffer syndrome
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ACS3 see Saethre-Chotzen syndrome
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ACS5 see Pfeiffer syndrome
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adenosine monophosphate deaminase deficiency
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Adrenoleukodystrophy see X-linked adrenoleukodystrophy
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Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
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Adult premature aging syndrome see Werner syndrome
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Adult Progeria see Werner syndrome
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Adynamia Episodica Hereditaria see hyperkalemic periodic paralysis
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Aglucosidase alfa see Pompe disease
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AKU see alkaptonuria
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Albright-McCune-Sternberg syndrome see McCune-Albright syndrome
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Albright-Sternberg syndrome see McCune-Albright syndrome
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Albright Syndrome see McCune-Albright syndrome
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Albright's disease see McCune-Albright syndrome
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Alcaptonuria see alkaptonuria
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ALD (Adrenoleukodystrophy) see X-linked adrenoleukodystrophy
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alkaptonuria
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alpha-1,4-Glucosidase deficiency see Pompe disease
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ALS see amyotrophic lateral sclerosis
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AMP deaminase deficiency see adenosine monophosphate deaminase deficiency
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amyotrophic lateral sclerosis
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anal-ear-renal-radial malformation syndrome see Townes-Brocks Syndrome
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Andersen cardiodysrhythmic periodic paralysis see Andersen-Tawil syndrome
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Andersen syndrome see Andersen-Tawil syndrome
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Andersen-Tawil syndrome
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anesthesia related hyperthermia see malignant hyperthermia
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ankylosing spondylitis
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AO2 see atelosteogenesis type 2
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Apert syndrome
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Appelt-Gerken-Lenz syndrome see Roberts syndrome
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ARSACS see autosomal recessive spastic ataxia of Charlevoix-Saguenay
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AS see ankylosing spondylitis
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asphyxiating thoracic dystrophy
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ataxia with oculomotor apraxia
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ataxia with vitamin E deficiency
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atelosteogenesis type 2
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Atrio-digital syndrome see Holt-Oram syndrome
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Atriodigital dysplasia see Holt-Oram syndrome
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ATS see Andersen-Tawil syndrome
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Autosomal Dominant Hereditary Spastic Paraplegia see spastic paraplegia type 4
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Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
- Autosomal Recessive Hereditary Spastic Paraplegia see spastic paraplegia type 7; Troyer syndrome
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autosomal recessive spastic ataxia of Charlevoix-Saguenay
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AVED see ataxia with vitamin E deficiency
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Baller-Gerold syndrome
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Bartholin-Patau syndrome see trisomy 13
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BDLS see Cornelia de Lange syndrome
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Beals-Hecht syndrome see congenital contractural arachnodactyly
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Beals syndrome see congenital contractural arachnodactyly
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Beare-Stevenson cutis gyrata syndrome
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Bechterew Disease see ankylosing spondylitis
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Benign scapuloperoneal muscular dystrophy with early contractures see Emery-Dreifuss muscular dystrophy
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Bessel-Hagen disease see hereditary multiple exostoses
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Beuren syndrome see Williams syndrome
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BGS see Baller-Gerold syndrome
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Bloom syndrome
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Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
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Brittle bone disease see osteogenesis imperfecta
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Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
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Buckley syndrome see Job syndrome
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Bulbospinal muscular atrophy, X-linked see spinal and bulbar muscular atrophy
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Camurati-Engelmann disease
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Cardiac-limb syndrome see Holt-Oram syndrome
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Cardio-facio-cutaneous syndrome see cardiofaciocutaneous syndrome
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cardiofaciocutaneous syndrome
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cardiomegalia glycogenica diffusa see Pompe disease
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carnitine palmitoyltransferase II deficiency
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Carnitine transporter deficiency see primary carnitine deficiency
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carnitine uptake defect see primary carnitine deficiency
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carnitine uptake deficiency see primary carnitine deficiency
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cartilage-hair hypoplasia
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CATCH22 see 22q11.2 deletion syndrome
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Catlin marks see enlarged parietal foramina
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CAVE complex see Pallister-Hall syndrome
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Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
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CCA see congenital contractural arachnodactyly
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CCD see central core disease
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CCO see central core disease
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CDLS see Cornelia de Lange syndrome
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CDS see Chanarin-Dorfman syndrome
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CED see Camurati-Engelmann disease
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central core disease
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cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome
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Ceramidase deficiency see Farber lipogranulomatosis
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cerebroacrovisceral early lethality complex see Pallister-Hall syndrome
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Cerebromuscular dystrophy, Fukuyama type see Fukuyama congenital muscular dystrophy
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CFC syndrome see cardiofaciocutaneous syndrome
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CHAC see chorea-acanthocytosis
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Chanarin-Dorfman syndrome
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Char syndrome
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Charcot disease see amyotrophic lateral sclerosis
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Charcot-Marie-Tooth disease
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Charlevoix-Saguenay spastic ataxia see autosomal recessive spastic ataxia of Charlevoix-Saguenay
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cherubism
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CHH see cartilage-hair hypoplasia
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CHILD syndrome see congenital hemidysplasia with ichthyosiform erythroderma and limb defects
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Chondrodystrophia fetalis see achondroplasia
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Chondrodystrophy syndrome see achondroplasia
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Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia
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Chondroectodermal Dysplasia see Ellis-van Creveld syndrome
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chondroectodermal dysplasia-like syndrome see asphyxiating thoracic dystrophy
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chorea-acanthocytosis
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Choreoacanthocytosis see chorea-acanthocytosis
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Choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
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Chotzen syndrome see Saethre-Chotzen syndrome
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chromosome 4p deletion syndrome see Wolf-Hirschhorn syndrome
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chromosome 4p monosomy see Wolf-Hirschhorn syndrome
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chromosome 17p deletion syndrome see Smith-Magenis syndrome
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chronic infantile neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
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chronic neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
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CINCA see neonatal onset multisystem inflammatory disease
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Classical Niemann-Pick Disease see Niemann-Pick disease
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cleidocranial dysplasia
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CLS see Coffin-Lowry syndrome
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CMT see Charcot-Marie-Tooth disease
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CNM see X-linked myotubular myopathy
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Cockayne-Pelizaeus-Merzbacher Disease see Pelizaeus-Merzbacher disease
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Cockayne syndrome
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Coffin-Lowry syndrome
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cold hypersensitivity see familial cold autoinflammatory syndrome
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Complete HPRT deficiency see Lesch-Nyhan syndrome
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Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
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Complete trisomy 13 syndrome see trisomy 13
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Complete trisomy 18 syndrome see trisomy 18
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congenital contractural arachnodactyly
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congenital hemidysplasia with ichthyosiform erythroderma and limb defects
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Congenital Lipomatosis of Pancreas see Shwachman-Diamond syndrome
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Congenital mesodermal dysmorphodystrophy see Weill-Marchesani syndrome
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Congenital myotonia see myotonia congenita
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Congenital osteosclerosis see achondroplasia
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Congenital poikiloderma see Rothmund-Thomson Syndrome
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Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
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contractural arachnodactyly, congenital see congenital contractural arachnodactyly
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Cornelia de Lange syndrome
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CPT2 see carnitine palmitoyltransferase II deficiency
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CPTII see carnitine palmitoyltransferase II deficiency
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Craniofacial dysarthrosis see Crouzon syndrome
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Craniofacial Dysostosis see Crouzon syndrome
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Craniofacial-skeletal-dermatologic dysplasia see Pfeiffer syndrome
- cranioorodigital syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
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Craniosynostosis-radial aplasia syndrome see Baller-Gerold syndrome
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Craniosynostosis with radial defects see Baller-Gerold syndrome
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cranium bifidum see enlarged parietal foramina
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CRASH syndrome see L1 syndrome
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Creatine deficiency, cerebral see guanidinoacetate methyltransferase deficiency
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creatine deficiency syndrome due to GAMT deficiency see guanidinoacetate methyltransferase deficiency
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Cross-McKusick syndrome see Troyer syndrome
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Crouzon syndrome
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Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome
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Crouzonodermoskeletal syndrome
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CS see Cockayne syndrome
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CUD see primary carnitine deficiency
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Cutaneous ossification see progressive osseous heteroplasia
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Cutis gyrata syndrome of Beare and Stevenson see Beare-Stevenson cutis gyrata syndrome
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cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome
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Cystine storage disease see cystinosis
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Cystinoses see cystinosis
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cystinosis
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Czech dysplasia
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DAF syndrome see Niemann-Pick disease
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Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
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DBMD see Duchenne and Becker muscular dystrophy
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De la Chapelle dysplasia see atelosteogenesis type 2
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De Lange Syndrome see Cornelia de Lange syndrome
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deafness-dystonia-optic neuronopathy syndrome
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Deafness-dystonia syndrome see deafness-dystonia-optic neuronopathy syndrome
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deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks Syndrome
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Deficiency of alkaline phosphatase see hypophosphatasia
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Deficiency of alpha-glucosidase see Pompe disease
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Deficiency of guanine phosphoribosyltransferase see Lesch-Nyhan syndrome
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Deficiency of hypoxanthine phosphoribosyltransferase see Lesch-Nyhan syndrome
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Deficiency of lysosomal alpha-glucosidase see Pompe disease
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7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
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del(4p) syndrome see Wolf-Hirschhorn syndrome
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4p Deletion Syndrome see Wolf-Hirschhorn syndrome
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deletion 17p syndrome see Smith-Magenis syndrome
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22q11.2 deletion syndrome
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DGSX see Simpson-Golabi-Behmel syndrome
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Diaphyseal Aclasis see hereditary multiple exostoses
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Diaphyseal Dysplasia, Progressive see Camurati-Engelmann disease
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diaphyseal hyperostosis see Camurati-Engelmann disease
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diastrophic dysplasia
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DiGeorge Syndrome see 22q11.2 deletion syndrome
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Distal myopathy 1 see Laing distal myopathy
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Distal myopathy with rimmed vacuoles see inclusion body myopathy 2
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DMRV see inclusion body myopathy 2
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dolichospondylic dysplasia see 3-M syndrome
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DRRS see Duane-radial ray syndrome
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DTD see diastrophic dysplasia
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Duane-radial ray syndrome
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Duchenne and Becker muscular dystrophy
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Dwarf, achondroplastic see achondroplasia
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Dwarf, thanatophoric see thanatophoric dysplasia
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Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome
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dysostosis craniofacialis with hypertelorism see Saethre-Chotzen syndrome
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Dysplasia, Spondyloepiphyseal see X-linked spondyloepiphyseal dysplasia tarda
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Dystonia 3, torsion, X-linked see X-linked dystonia-parkinsonism
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dystonia musculorum deformans see X-linked dystonia-parkinsonism
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Dystonia musculorum deformans 1 see early-onset primary dystonia
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Dystonia-parkinsonism, X-linked see X-linked dystonia-parkinsonism
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Dystrophia myotonica see myotonic dystrophy
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DYT1 see early-onset primary dystonia
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DYT3 see X-linked dystonia-parkinsonism
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EAOH see ataxia with oculomotor apraxia
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early-onset ataxia with ocular motor apraxia and hypoalbuminemia see ataxia with oculomotor apraxia
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early-onset primary dystonia
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Ectopic Ossification see progressive osseous heteroplasia
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EDM1 see multiple epiphyseal dysplasia
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EDM2 see multiple epiphyseal dysplasia
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EDM3 see multiple epiphyseal dysplasia
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EDM4 see multiple epiphyseal dysplasia
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EDM5 see multiple epiphyseal dysplasia
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EDMD see Emery-Dreifuss muscular dystrophy
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EDS see Ehlers-Danlos syndrome
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Edwards Syndrome see trisomy 18
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Ehlers-Danlos syndrome
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Elfin Facies Syndrome see Williams syndrome
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Elfin facies with hypercalcemia see Williams syndrome
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Ellis-van Creveld syndrome
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Emery-Dreifuss muscular dystrophy
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Engelmann's Disease see Camurati-Engelmann disease
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enlarged parietal foramina
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Epiphyseal dysplasia, Fairbank type see multiple epiphyseal dysplasia
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Epiphyseal dysplasia, multiple, 1 see multiple epiphyseal dysplasia
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Epiphyseal dysplasia, multiple, 2 see multiple epiphyseal dysplasia
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Epiphyseal dysplasia, multiple, 3 see multiple epiphyseal dysplasia
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Epiphyseal dysplasia, multiple, 4 see multiple epiphyseal dysplasia
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Epiphyseal dysplasia, multiple, 5 see multiple epiphyseal dysplasia
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Epiphyseal dysplasia, Ribbing type see multiple epiphyseal dysplasia
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Eulenburg Disease see paramyotonia congenita
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exercise-induced myopathy see adenosine monophosphate deaminase deficiency
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Exostoses, Multiple Hereditary see hereditary multiple exostoses
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FA see Friedreich ataxia
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Facio-digito-genital dysplasia see Aarskog-Scott syndrome
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Facio-genito-popliteal syndrome see popliteal pterygium syndrome
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Faciogenital dysplasia see Aarskog-Scott syndrome
- faciopalatoosseous syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
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Familial benign giant-cell tumor of the jaw see cherubism
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familial cold autoinflammatory syndrome
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Familial Exostoses see hereditary multiple exostoses
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Familial fibrous dysplasia of jaw see cherubism
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Familial Hyperkalemic Periodic Paralysis see hyperkalemic periodic paralysis
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Familial Hypokalemic Periodic Paralysis see hypokalemic periodic paralysis
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familial isolated vitamin E deficiency see ataxia with vitamin E deficiency
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Familial multilocular cystic disease of the jaws see cherubism
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familial Turner syndrome see Noonan syndrome
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Farber lipogranulomatosis
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FCAS see familial cold autoinflammatory syndrome
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FCMD see Fukuyama congenital muscular dystrophy
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FCU see familial cold autoinflammatory syndrome
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Female Pseudo-Turner Syndrome see Noonan syndrome
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Fetal face syndrome see Robinow syndrome
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FGFR3-associated coronal synostosis see Muenke syndrome
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fibrodysplasia ossificans progressiva
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Fibrous Dysplasia, Polyostotic see McCune-Albright syndrome
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Fibrous dysplasia with pigmentary skin changes and precocious puberty see McCune-Albright syndrome
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FIVE see ataxia with vitamin E deficiency
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Fong disease see nail-patella syndrome
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foramina parietalia permagna see enlarged parietal foramina
- FPO see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
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FPP see enlarged parietal foramina
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fra(X) syndrome see fragile X syndrome
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fragile X syndrome
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Fragilitas ossium see osteogenesis imperfecta
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Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome
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FRAXA Syndrome see fragile X syndrome
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FRDA see Friedreich ataxia
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Friedreich ataxia
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Friedreich ataxia phenotype with selective vitamin E deficiency see ataxia with vitamin E deficiency
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Friedreich-like ataxia see ataxia with vitamin E deficiency
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frontometaphyseal dysplasia
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Fukuyama congenital muscular dystrophy
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FXS see fragile X syndrome
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GAA deficiency see Pompe disease
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Gamstorp disease see hyperkalemic periodic paralysis
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Gamstorp episodic adynamy see hyperkalemic periodic paralysis
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GAMT deficiency see guanidinoacetate methyltransferase deficiency
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Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome
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Generalized Glycogenosis, Cardiac Form see Pompe disease
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Glycogen Storage Disease Type II see Pompe disease
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Glycogenosis Type II see Pompe disease
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Greig cephalopolysyndactyly syndrome
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GSD II see Pompe disease
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guanidinoacetate methyltransferase deficiency
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Hall-Pallister syndrome see Pallister-Hall syndrome
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hand-foot-genital syndrome
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Hand-foot-uterus syndrome see hand-foot-genital syndrome
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HCH see hypochondroplasia
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Heart-hand syndrome, type 1 see Holt-Oram syndrome
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hereditary arthro-ophthalmo-dystrophy see Stickler syndrome
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Hereditary arthro-ophthalmopathy see Stickler syndrome
- Hereditary Autosomal Dominant Spastic Paraplegia see spastic paraplegia type 3A; spastic paraplegia type 4
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Hereditary inclusion body myopathy see inclusion body myopathy 2
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hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease
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hereditary motor neuronopathy see spinal muscular atrophy
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hereditary multiple exostoses
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hereditary oligophrenic cerebello-lental degeneration see Marinesco-Sjögren syndrome
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Hereditary onycho-osteodysplasia see nail-patella syndrome
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Hereditary Osteo-Onychodysplasias see nail-patella syndrome
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Hereditary Spastic Paraplegia
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Hereditary spinal ataxia see Friedreich ataxia
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Hereditary Spinal Sclerosis see Friedreich ataxia
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Hereditary X-linked Recessive Spastic Paraplegia see spastic paraplegia type 2
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Heterotopic Ossification see progressive osseous heteroplasia
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Heterozygous OSMED see Weissenbacher-Zweymüller syndrome
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Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome
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HFG syndrome see hand-foot-genital syndrome
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HFGS see hand-foot-genital syndrome
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HFU syndrome see hand-foot-genital syndrome
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HGPS see Hutchinson-Gilford progeria syndrome
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HIBM see inclusion body myopathy 2
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HIE syndrome see Job syndrome
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HIES see Job syndrome
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HMSN see Charcot-Marie-Tooth disease
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HOKPP see hypokalemic periodic paralysis
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Holt-Oram syndrome
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Homogentisic acid oxidase deficiency see alkaptonuria
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Homogentisic acidura see alkaptonuria
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HOS see Holt-Oram syndrome
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Hutchinson-Gilford progeria syndrome
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Hyper-IgE Syndrome see Job syndrome
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Hypercalcemia-Supravalvar Aortic Stenosis see Williams syndrome
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Hyperimmunoglobulin E-Recurrent Infection Syndrome see Job syndrome
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hyperkalemic periodic paralysis
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HyperKPP see hyperkalemic periodic paralysis
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HyperPP see hyperkalemic periodic paralysis
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Hyperpyrexia, Malignant see malignant hyperthermia
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Hyperthermia, Malignant see malignant hyperthermia
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Hypochondrodysplasia see hypochondroplasia
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hypochondrogenesis
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hypochondroplasia
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hypokalemic periodic paralysis
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HypoKPP see hypokalemic periodic paralysis
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Hypomelia hypotrichosis facial hemangioma syndrome see Roberts syndrome
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hypophosphatasia
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HypoPP see hypokalemic periodic paralysis
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hypothalamic hamartoblastoma syndrome see Pallister-Hall syndrome
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hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency see Lesch-Nyhan syndrome
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IBM2 see inclusion body myopathy 2
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IBMPFD see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
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Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs see congenital hemidysplasia with ichthyosiform erythroderma and limb defects
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Ichthyotic neutral lipid storage disease see Chanarin-Dorfman syndrome
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immunoosseous dysplasia, Schimke type see Schimke immuno-osseous dysplasia
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imperforate anus-hand and foot anomalies syndrome see Townes-Brocks Syndrome
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inclusion body myopathy 2
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inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
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Infantile hypercalcemia see Williams syndrome
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infantile onset multisystem inflammatory disease see neonatal onset multisystem inflammatory disease
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infantile systemic hyalinosis
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infantile thoracic dystrophy see asphyxiating thoracic dystrophy
- inherited systemic hyalinosis see infantile systemic hyalinosis; juvenile hyaline fibromatosis
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Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia
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IOMID syndrome see neonatal onset multisystem inflammatory disease
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Jackson-Weiss syndrome
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Jeune syndrome see asphyxiating thoracic dystrophy
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Jeune thoracic dysplasia see asphyxiating thoracic dystrophy
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Jeune thoracic dystrophy see asphyxiating thoracic dystrophy
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Job syndrome
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Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
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juvenile hyaline fibromatosis
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Juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome
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JWS see Jackson-Weiss syndrome
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KD see spinal and bulbar muscular atrophy
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Kennedy disease see spinal and bulbar muscular atrophy
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Kennedy spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
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Kniest dysplasia
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Krause-Kivlin syndrome see Peters plus syndrome
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Krause-van Schooneveld-Kivlin syndrome see Peters plus syndrome
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L1 syndrome
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Laing distal myopathy
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Late-onset spondyloepiphyseal dysplasia see X-linked spondyloepiphyseal dysplasia tarda
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Le Merrer syndrome see 3-M syndrome
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Lenz microphthalmia syndrome
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Lesch-Nyhan syndrome
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lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
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lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
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LNS see Lesch-Nyhan syndrome
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Long QT syndrome 7 see Andersen-Tawil syndrome
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Long QT syndrome with syndactyly see Timothy syndrome
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Lou Gehrig Disease see amyotrophic lateral sclerosis
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Lower motor neuron degeneration with Paget-like bone disease see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
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LQT7 see Andersen-Tawil syndrome
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LQT8 see Timothy syndrome
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Lubag see X-linked dystonia-parkinsonism
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Lysosomal alpha-1,4-glucosidase deficiency see Pompe disease
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3-M syndrome
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3MGA see 3-methylglutaconic aciduria
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MAA see Lenz microphthalmia syndrome
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MAD deficiency see adenosine monophosphate deaminase deficiency
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MADA deficiency see adenosine monophosphate deaminase deficiency
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Male Turner Syndrome see Noonan syndrome
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malignant hyperthermia
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Mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome
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Marchesani syndrome see Weill-Marchesani syndrome
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Marfan syndrome
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Marie-Sainton syndrome see cleidocranial dysplasia
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Marie-Struempell Disease see ankylosing spondylitis
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Marinesco-Garland syndrome see Marinesco-Sjögren syndrome
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Marinesco-Sjögren syndrome
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Marker X syndrome see fragile X syndrome
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Martin-Bell Syndrome see fragile X syndrome
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MAS see McCune-Albright syndrome
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MASA syndrome see L1 syndrome
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McAlister dysplasia see atelosteogenesis type 2
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McCune-Albright syndrome
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McKusick's metaphyseal chondrodysplasia syndrome see cartilage-hair hypoplasia
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MCOPS1 see Lenz microphthalmia syndrome
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MED see multiple epiphyseal dysplasia
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Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
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MELAS see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
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Melnick-Needles syndrome
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mental retardation-overgrowth syndrome see Simpson-Golabi-Behmel syndrome
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Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome
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mesomelic dwarfism-small genitalia syndrome see Robinow syndrome
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Metaphyseal chondrodysplasia, McKusick type see cartilage-hair hypoplasia
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metaphyseal chondrodysplasia, recessive type see cartilage-hair hypoplasia
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Metaphyseal chondrodysplasia, Shwachman type see Shwachman-Diamond syndrome
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Metatropic dwarfism, type II see Kniest dysplasia
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Metatropic dysplasia type II see Kniest dysplasia
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3-methylglutaconic aciduria
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MFS see Marfan syndrome
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MHS - Malignant hyperthermia see malignant hyperthermia
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microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
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Minicore disease see multiminicore disease
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Minicore myopathy see multiminicore disease
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mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
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MmD see multiminicore disease
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MNS see Melnick-Needles syndrome
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Mohr-Tranebjærg syndrome see deafness-dystonia-optic neuronopathy syndrome
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molluscum fibrosum see juvenile hyaline fibromatosis
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monosomy 4p see Wolf-Hirschhorn syndrome
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17p11.2 monosomy see Smith-Magenis syndrome
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Motor Neuron Disease, Amyotrophic Lateral Sclerosis see amyotrophic lateral sclerosis
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MPD1 see Laing distal myopathy
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3-MSBN see 3-M syndrome
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MSS see Marinesco-Sjögren syndrome
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MTMX see X-linked myotubular myopathy
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Muckle-Wells syndrome
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Muenke syndrome
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Multi-minicore disease see multiminicore disease
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Multicore disease see multiminicore disease
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Multicore myopathy see multiminicore disease
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multiminicore disease
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Multiple Cartilaginous Exostoses see hereditary multiple exostoses
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multiple epiphyseal dysplasia
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Multiple Hereditary Exostoses see hereditary multiple exostoses
-
Multiple Osteochondromas see hereditary multiple exostoses
-
Multiple osteochondromatosis see hereditary multiple exostoses
-
Murray syndrome see juvenile hyaline fibromatosis
-
Muscle form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase II deficiency
-
Muscle hypertrophy syndrome see myostatin-related muscle hypertrophy
-
Muscular dystrophy, congenital, Fukuyama type see Fukuyama congenital muscular dystrophy
-
Muscular dystrophy, congenital progressive, with mental retardation see Fukuyama congenital muscular dystrophy
-
Muscular dystrophy, congenital, with central nervous system involvement see Fukuyama congenital muscular dystrophy
-
muscular dystrophy, Duchenne and Becker types see Duchenne and Becker muscular dystrophy
-
Muscular Dystrophy, Emery-Dreifuss see Emery-Dreifuss muscular dystrophy
-
Muscular dystrophy, limb-girdle, with Paget disease of bone see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
-
Muscular Dystrophy, Oculopharyngeal see oculopharyngeal muscular dystrophy
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Muscular Dystrophy, Pseudohypertrophic see Duchenne and Becker muscular dystrophy
-
MWS see Muckle-Wells syndrome
-
myoadenylate deaminase deficiency see adenosine monophosphate deaminase deficiency
-
Myopathy, Central Core see central core disease
-
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
-
Myositis Ossificans see fibrodysplasia ossificans progressiva
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myostatin-related muscle hypertrophy
-
Myotonia atrophica see myotonic dystrophy
-
myotonia congenita
-
Myotonia dystrophica see myotonic dystrophy
-
myotonic dystrophy
-
nail-patella syndrome
-
Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
-
Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
-
Nasu-Hakola disease see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
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neonatal onset multisystem inflammatory disease
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Neonatal osseous dysplasia 1 see atelosteogenesis type 2
-
Neuroacanthocytosis see chorea-acanthocytosis
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Neuronal Cholesterol Lipidosis see Niemann-Pick disease
-
neutral lipid storage disease with ichthyosis see Chanarin-Dorfman syndrome
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neutral lipid storage disease with myopathy
-
NHD see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
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Niemann-Pick disease
-
NLSDM see neutral lipid storage disease with myopathy
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Noack syndrome see Pfeiffer syndrome
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NOMID see neonatal onset multisystem inflammatory disease
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Nonaka myopathy see inclusion body myopathy 2
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Noonan syndrome
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NPD see Niemann-Pick disease
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oculopharyngeal muscular dystrophy
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OI see osteogenesis imperfecta
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Okihiro syndrome see Duane-radial ray syndrome
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OPD syndrome, type 1 see otopalatodigital syndrome type 1
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OPD syndrome, type 2 see otopalatodigital syndrome type 2
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Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
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OPMD see oculopharyngeal muscular dystrophy
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Oppenheim dystonia see early-onset primary dystonia
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OSMED see otospondylomegaepiphyseal dysplasia
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osteitis fibrosa disseminata see McCune-Albright syndrome
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Osteodermia see progressive osseous heteroplasia
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osteodysplasty of Melnick and Needles see Melnick-Needles syndrome
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osteogenesis imperfecta
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Osteoma cutis see progressive osseous heteroplasia
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Osteosclerosis congenita see achondroplasia
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Osteosis cutis see progressive osseous heteroplasia
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Osterreicher Syndrome see nail-patella syndrome
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Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia
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otopalatodigital syndrome type 1
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otopalatodigital syndrome type 2
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otospondylomegaepiphyseal dysplasia
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Pagetoid amyotrophic lateral sclerosis see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
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Pagetoid neuroskeletal syndrome see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
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Pallister-Hall syndrome
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PAM see potassium-aggravated myotonia
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Paralysis periodica paramyotonia see paramyotonia congenita
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paramyotonia congenita
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partial monosomy 4p see Wolf-Hirschhorn syndrome
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partial monosomy 17p see Smith-Magenis syndrome
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Patau syndrome see trisomy 13
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Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits see Char syndrome
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PDD see Camurati-Engelmann disease
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Pelizaeus-Merzbacher disease
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Pelvic Horn Syndrome see nail-patella syndrome
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Periodic paralysis, potassium-sensitive cardiodysrhythmic type see Andersen-Tawil syndrome
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Peroneal Muscular Atrophy see Charcot-Marie-Tooth disease
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Peters plus syndrome
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PFD see McCune-Albright syndrome
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Pfeiffer syndrome
-
PFM see enlarged parietal foramina
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Phosphoethanolaminuria see hypophosphatasia
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PHS see Pallister-Hall syndrome
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Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome
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platyspondylic lethal skeletal dysplasia, Torrance type
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PLO-SL see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
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PLOSL see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
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PLSD-T see platyspondylic lethal skeletal dysplasia, Torrance type
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PMA see Charcot-Marie-Tooth disease
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PMC see paramyotonia congenita
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PMD see Pelizaeus-Merzbacher disease
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POFD see McCune-Albright syndrome
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POH see progressive osseous heteroplasia
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Poikiloderma atrophicans and cataract see Rothmund-Thomson Syndrome
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Poikiloderma Congenitale see Rothmund-Thomson Syndrome
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polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
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Polymicrogyria with muscular dystrophy see Fukuyama congenital muscular dystrophy
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Polyostotic Fibrous Dysplasia see McCune-Albright syndrome
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Pompe disease
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popliteal pterygium syndrome
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potassium-aggravated myotonia
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PPS see popliteal pterygium syndrome
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Prader-Labhart-Willi syndrome see Prader-Willi syndrome
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Prader-Willi syndrome
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Presenile dementia with bone cysts see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
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Prieur-Griscelli syndrome see neonatal onset multisystem inflammatory disease
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primary carnitine deficiency
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Primary Hyperkalemic Periodic Paralysis see hyperkalemic periodic paralysis
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Primary hyperuricemia syndrome see Lesch-Nyhan syndrome
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Primary Hypokalemic Periodic Paralysis see hypokalemic periodic paralysis
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Primary torsion dystonia see early-onset primary dystonia
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Progeria see Hutchinson-Gilford progeria syndrome
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Progeria-Like Syndrome see Cockayne syndrome
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progeroid nanism see Cockayne syndrome
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Progressive Muscular Atrophy see spinal muscular atrophy
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Progressive muscular dystrophy, oculopharyngeal type see oculopharyngeal muscular dystrophy
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Progressive myositis ossificans see fibrodysplasia ossificans progressiva
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progressive osseous heteroplasia
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progressive ossifying myositis see fibrodysplasia ossificans progressiva
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progressive pseudorheumatoid dysplasia with hypoplastic toes see Czech dysplasia
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PSACH see pseudoachondroplasia
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pseudo-Ullrich-Turner syndrome see Noonan syndrome
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pseudoachondroplasia
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Pseudoachondroplastic dysplasia see pseudoachondroplasia
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Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome see pseudoachondroplasia
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Pseudothalidomide syndrome see Roberts syndrome
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Puretic syndrome see juvenile hyaline fibromatosis
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PWS see Prader-Willi syndrome
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QSM see inclusion body myopathy 2
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RBS see Roberts syndrome
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Renal carnitine transport defect see primary carnitine deficiency
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renal-ear-anal-radial syndrome (REAR) see Townes-Brocks Syndrome
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Rimmed vacuole myopathy see inclusion body myopathy 2
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rMED see multiple epiphyseal dysplasia
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Roberts syndrome
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Robinow syndrome
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Rothmund-Thomson Syndrome
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RSH Syndrome see Smith-Lemli-Opitz syndrome
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RSS see Russell-Silver syndrome
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RSTS see Rubinstein-Taybi syndrome
- RTS see Rothmund-Thomson Syndrome; Rubinstein-Taybi syndrome
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Rubinstein-Taybi syndrome
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Russell-Silver syndrome
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SADDAN
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Saethre-Chotzen syndrome
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SBMA see spinal and bulbar muscular atrophy
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SC phocomelia syndrome see Roberts syndrome
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SC pseudothalidomide syndrome see Roberts syndrome
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SC syndrome see Roberts syndrome
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SCAD deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
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SCADH deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
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SCAN2 see ataxia with oculomotor apraxia
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SCAR1 see ataxia with oculomotor apraxia
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Schilder-Addison Complex see X-linked adrenoleukodystrophy
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Schimke immuno-osseous dysplasia
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sclerosis; brain, Pelizaeus-Merzbacher see Pelizaeus-Merzbacher disease
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SCS see Saethre-Chotzen syndrome
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SDS see Shwachman-Diamond syndrome
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SDYS see Simpson-Golabi-Behmel syndrome
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SED congenita see spondyloepiphyseal dysplasia congenita
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SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type
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SED tarda see X-linked spondyloepiphyseal dysplasia tarda
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SEDc see spondyloepiphyseal dysplasia congenita
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Sedlackova syndrome see 22q11.2 deletion syndrome
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SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
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sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks Syndrome
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Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
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SGBS see Simpson-Golabi-Behmel syndrome
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short-chain acyl-coenzyme A dehydrogenase deficiency
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Shprintzen syndrome see 22q11.2 deletion syndrome
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Shwachman-Bodian-Diamond syndrome see Shwachman-Diamond syndrome
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Shwachman-Bodian syndrome see Shwachman-Diamond syndrome
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Shwachman-Diamond syndrome
-
Shwachman syndrome see Shwachman-Diamond syndrome
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Shy-Magee Syndrome see central core disease
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Silver-Russell Dwarfism see Russell-Silver syndrome
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Silver-Russell syndrome see Russell-Silver syndrome
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Simpson dysplasia syndrome see Simpson-Golabi-Behmel syndrome
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Simpson-Golabi-Behmel syndrome
-
Simpson syndrome see Simpson-Golabi-Behmel syndrome
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SIOD see Schimke immuno-osseous dysplasia
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Skeleton-skin-brain syndrome see SADDAN
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SLO syndrome see Smith-Lemli-Opitz syndrome
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SLOS see Smith-Lemli-Opitz syndrome
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SMA see spinal muscular atrophy
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SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
-
SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type
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Smith-Lemli-Opitz syndrome
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Smith-Magenis syndrome
-
SMS see Smith-Magenis syndrome
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sodium channel myotonia see potassium-aggravated myotonia
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spastic ataxia, Charlevoix-Saguenay type see autosomal recessive spastic ataxia of Charlevoix-Saguenay
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spastic ataxia of Charlevoix-Saguenay see autosomal recessive spastic ataxia of Charlevoix-Saguenay
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spastic paraparesis, childhood-onset, with distal muscle wasting see Troyer syndrome
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spastic paraplegia 20, autosomal recessive see Troyer syndrome
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spastic paraplegia, autosomal recessive, Troyer type see Troyer syndrome
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spastic paraplegia type 2
-
spastic paraplegia type 3A
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spastic paraplegia type 4
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spastic paraplegia type 7
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SPD see spondyloperipheral dysplasia
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SPG1 see L1 syndrome
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SPG20 see Troyer syndrome
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SPG3A see spastic paraplegia type 3A
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Spherophakia-brachymorphia syndrome see Weill-Marchesani syndrome
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Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
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Sphingomyelin lipidosis see Niemann-Pick disease
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Sphingomyelinase deficiency see Niemann-Pick disease
-
spinal and bulbar muscular atrophy
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spinal muscular atrophy
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Spinocerebellar Ataxia, Friedreich see Friedreich ataxia
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spinocerebellar ataxia, recessive, non-Friedreich type 1 see ataxia with oculomotor apraxia
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spinocerebellar ataxia with axonal neuropathy type 2 see ataxia with oculomotor apraxia
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Spondylarthritis Ankylopoietica see ankylosing spondylitis
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Spondylitis ankylopoietica see ankylosing spondylitis
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Spondylitis, Ankylosing see ankylosing spondylitis
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Spondyloarthritis Ankylopoietica see ankylosing spondylitis
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spondyloarthropathy with short third and fourth toes see Czech dysplasia
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spondyloepimetaphyseal dysplasia, Strudwick type
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Spondyloepiphyseal Dysplasia see X-linked spondyloepiphyseal dysplasia tarda
-
spondyloepiphyseal dysplasia congenita
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Spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
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Spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type
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spondyloperipheral dysplasia
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SRS see Russell-Silver syndrome
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SSB syndrome see SADDAN
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Stickler syndrome
-
Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
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Supravalvar aortic stenosis syndrome see Williams syndrome
-
Swiss cheese cartilage dysplasia see Kniest dysplasia
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4p- syndrome see Wolf-Hirschhorn syndrome
-
17p- syndrome see Smith-Magenis syndrome
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Systemic carnitine deficiency see primary carnitine deficiency
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Systemic hyalinosis see juvenile hyaline fibromatosis
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Tardive tibial muscular dystrophy see tibial muscular dystrophy
- Taybi syndrome see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
-
tetra-amelia syndrome
-
tetraphocomelia-cleft palate syndrome see Roberts syndrome
-
thanatophoric dysplasia
-
thoracic asphyxiant dystrophy see asphyxiating thoracic dystrophy
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three-M slender-boned nanism see 3-M syndrome
-
three M syndrome see 3-M syndrome
-
tibial muscular dystrophy
-
Timothy syndrome
-
TMD see tibial muscular dystrophy
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Torsion dystonia-parkinsonism, Filipino type see X-linked dystonia-parkinsonism
-
Total HPRT deficiency see Lesch-Nyhan syndrome
-
Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
-
Townes-Brocks Syndrome
-
Townes syndrome see Townes-Brocks Syndrome
-
Treacher Collins syndrome
-
Triglyceride storage disease with ichthyosis see Chanarin-Dorfman syndrome
-
triglyceride storage disease with impaired long-chain fatty acid oxidation see Chanarin-Dorfman syndrome
-
trisomy 13
-
trisomy 18
-
Troyer syndrome
-
TS see Timothy syndrome
-
Turner-Kieser Syndrome see nail-patella syndrome
-
Turner-like syndrome see Noonan syndrome
-
Turner syndrome in female with X chromosome see Noonan syndrome
-
Turner's phenotype, karyotype normal see Noonan syndrome
-
UDA syndrome see Muckle-Wells syndrome
-
Udd distal myopathy see tibial muscular dystrophy
-
Udd-Markesbery Muscular Dystrophy see tibial muscular dystrophy
-
Udd Myopathy see tibial muscular dystrophy
-
Ullrich-Noonan syndrome see Noonan syndrome
-
urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome
-
VCFS see 22q11.2 deletion syndrome
-
Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
-
Velocardiofacial syndrome see 22q11.2 deletion syndrome
-
Ventriculo-radial syndrome see Holt-Oram syndrome
-
Vitamin E Deficiency see ataxia with vitamin E deficiency
-
Von Eulenberg's disease see paramyotonia congenita
-
Vrolik disease see osteogenesis imperfecta
-
WBS see Williams syndrome
-
Weill-Marchesani syndrome
-
Weissenbacher-Zweymüller syndrome
-
Werner syndrome
-
Westphall disease see hypokalemic periodic paralysis
-
WHS see Wolf-Hirschhorn syndrome
-
Williams syndrome
- WMS see Weill-Marchesani syndrome; Williams syndrome
-
Wolf-Hirschhorn syndrome
- WS see Werner syndrome; Williams syndrome
-
WZS see Weissenbacher-Zweymüller syndrome
-
X-ALD see X-linked adrenoleukodystrophy
-
X-linked adrenoleukodystrophy
-
X-linked complicated hereditary spastic paraplegia type 1 see L1 syndrome
-
X-linked corpus callosum agenesis see L1 syndrome
-
X-linked dystonia-parkinsonism
-
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) see L1 syndrome
-
X-linked hyperuricemia see Lesch-Nyhan syndrome
-
X-linked mental retardation and macroorchidism see fragile X syndrome
-
X-linked myotubular myopathy
-
X-linked primary hyperuricemia see Lesch-Nyhan syndrome
-
X linked Recessive Hereditary Spastic Paraplegia see spastic paraplegia type 2
-
X-linked spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy
-
X-linked spondyloepiphyseal dysplasia tarda
-
X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome
-
XDP see X-linked dystonia-parkinsonism
-
XLMTM see X-linked myotubular myopathy
-
XMTM see X-linked myotubular myopathy
-
Yakut short stature syndrome see 3-M syndrome
-
zygoauromandibular dysplasia see Treacher Collins syndrome
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