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Abnormality of the voice
Therapeutic area code (HPO):
HP:0001608Panel «Abnormality of the voice» :
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Disease code
Disease name
Disease code
Disease name
- ORPHA:963 Acromegaly
- ORPHA:969 Acromicric dysplasia
- OMIM:102370 Acromicric dysplasia
- ORPHA:79276 Acute intermittent porphyria
- ORPHA:420492 Adult-onset cervical dystonia, DYT23 type
- ORPHA:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- ORPHA:51 Aicardi-Goutières syndrome
- ORPHA:85443 AL amyloidosis
- OMIM:615510 Alacrima, achalasia, and mental retardation syndrome
- ORPHA:58 Alexander disease
- ORPHA:363722 Alexander disease type II
- ORPHA:399058 Alpha-B crystallin-related late-onset myopathy
- OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked
- OMIM:105400 Amyotrophic lateral sclerosis 1
- OMIM:606070 Amyotrophic lateral sclerosis 21
- ORPHA:142 Anaplastic thyroid carcinoma
- ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- ORPHA:81 Antisynthetase syndrome
- ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- ORPHA:268882 Arnold-Chiari malformation type I
- ORPHA:1136 Arnold-Chiari malformation type II
- OMIM:193700 Arthrogryposis, distal, type 2A
- OMIM:208400 Aspartylglucosaminuria
- ORPHA:391411 Atypical juvenile parkinsonism
- ORPHA:99750 Atypical progressive supranuclear palsy syndrome
- ORPHA:79474 Atypical Werner syndrome
- OMIM:602483 Auriculocondylar syndrome 1
- OMIM:614669 Auriculocondylar syndrome 2
- ORPHA:36913 Autoimmune hypoparathyroidism
- ORPHA:99 Autosomal dominant cerebellar ataxia
- ORPHA:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- ORPHA:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy
- ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type
- ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome
- ORPHA:169186 Autosomal recessive centronuclear myopathy
- ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
- ORPHA:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia
- ORPHA:100996 Autosomal recessive spastic paraplegia type 15
- ORPHA:101000 Autosomal recessive spastic paraplegia type 20
- ORPHA:101006 Autosomal recessive spastic paraplegia type 26
Disease code
Disease name
- ORPHA:324581 Benign Samaritan congenital myopathy
- ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria
- ORPHA:98889 Bilateral perisylvian polymicrogyria
- ORPHA:268940 Bilateral polymicrogyria
- OMIM:619534 Biliary, renal, neurologic, and skeletal syndrome
- ORPHA:1252 Blepharonasofacial malformation syndrome
- OMIM:210900 Bloom syndrome
- ORPHA:352649 Brain dopamine-serotonin vesicular transport disease
- ORPHA:1297 Branchio-oculo-facial syndrome
- OMIM:113620 Branchiooculofacial syndrome
- OMIM:211530 Brown-Vialetto-Van laere syndrome 1
- ORPHA:1306 Buschke-Ollendorff syndrome
- OMIM:166700 Buschke-Ollendorff syndrome
Disease code
Disease name
- ORPHA:171881 Cap myopathy
- ORPHA:70482 Carcinoma of esophagus
- OMIM:619941 Carey-Fineman-Ziter syndrome 2
- OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities
- OMIM:125310 Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy
- ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
- OMIM:117650 Cerebrocostomandibular syndrome
- OMIM:213700 Cerebrotendinous xanthomatosis
- ORPHA:99948 Charcot-Marie-Tooth disease type 4A
- ORPHA:99956 Charcot-Marie-Tooth disease type 4B2
- ORPHA:99949 Charcot-Marie-Tooth disease type 4C
- OMIM:619519 Charcot-Marie-Tooth disease, axonal, type 2FF
- OMIM:619574 Charcot-Marie-Tooth disease, axonal, type 2HH
- OMIM:615490 Charcot-Marie-Tooth disease, axonal, type 2R
- OMIM:616688 Charcot-Marie-Tooth disease, axonal, type 2Z
- OMIM:607706 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive
- OMIM:614895 Charcot-Marie-Tooth disease, demyelinating, type 4F
- ORPHA:184 Cherubism
- ORPHA:2388 Choreoacanthocytosis
- OMIM:215480 Choroid plexus calcification and mental retardation
- OMIM:608363 Chromosome 22q11.2 duplication syndrome
- OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome
- OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome
- OMIM:613544 Chromosome 6q11-q14 deletion syndrome
- OMIM:300801 Chromosome xp11.23-p11.22 duplication syndrome
- OMIM:300869 Chromosome xq27.3-q28 duplication syndrome
- ORPHA:79239 Classic galactosemia
- ORPHA:324604 Classic multiminicore myopathy
- OMIM:215800 Cleft larynx, posteriorstridor, congenital, included
- ORPHA:141291 Cleft lip and alveolus
- ORPHA:199306 Cleft lip/palate
- ORPHA:2016 Cleft palate-lateral synechia syndrome
- ORPHA:99772 Cleft velum
- ORPHA:191 Cockayne syndrome
- OMIM:600373 CODAS syndrome
- OMIM:614654 Coenzyme Q10 deficiency, primary, 5
- OMIM:135900 Coffin-Siris syndrome 1
- ORPHA:193 Cohen syndrome
- ORPHA:2050 Cole-Carpenter syndrome
- OMIM:112240 Cole-Carpenter syndrome 1
- OMIM:616294 Cole-Carpenter syndrome 2
- OMIM:615595 Combined oxidative phosphorylation deficiency 19
- ORPHA:2020 Congenital fiber-type disproportion myopathy
- ORPHA:442 Congenital hypothyroidism
- ORPHA:2374 Congenital laryngeal web
- ORPHA:2373 Congenital laryngomalacia
- ORPHA:272 Congenital muscular dystrophy, Fukuyama type
- ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- ORPHA:590 Congenital myasthenic syndrome
- ORPHA:141127 Congenital tracheal stenosis
- ORPHA:95430 Congenital tracheomalacia
- ORPHA:2291 Congenital velopharyngeal incompetence
- ORPHA:725 Continuous spikes and waves during sleep
- ORPHA:199 Cornelia de Lange syndrome
- OMIM:122470 Cornelia de Lange syndrome 1
- OMIM:218040 Costello syndrome
- OMIM:123450 Cri-Du-Chat syndrome
- OMIM:272430 Crisponi/cold-induced sweating syndrome 1
- ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome
- OMIM:613177 Cutis laxa, autosomal recessive, type IC
Disease code
Disease name
- ORPHA:2962 De Barsy syndrome
- OMIM:619488 DEGCAGS syndrome
- ORPHA:221 Dermatomyositis
- OMIM:617711 Developmental and epileptic encephalopathy 91
- OMIM:619606 Developmental and epileptic encephalopathy 99
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- OMIM:222600 Diastrophic dysplasia
- ORPHA:2123 Diffuse neonatal hemangiomatosis
- OMIM:188400 Digeorge syndrome
- ORPHA:261337 Distal 22q11.2 microduplication syndrome
- ORPHA:96149 Distal monosomy 12q
- ORPHA:98911 Distal myotilinopathy
- OMIM:223370 Dubowitz syndrome
- ORPHA:210571 Dystonia 16
- OMIM:612067 Dystonia 16
- OMIM:612406 Dystonia 17, torsion, autosomal recessive
- OMIM:614588 Dystonia 21
- OMIM:614860 Dystonia 23
- OMIM:615073 Dystonia 25
- OMIM:616398 Dystonia 26, myoclonic
- OMIM:616411 Dystonia 27
- ORPHA:589618 Dystonia 28
- OMIM:617284 Dystonia 28, childhood-onset
- OMIM:619565 Dystonia 31
- OMIM:619637 Dystonia 32
- OMIM:128101 Dystonia 4, torsion, autosomal dominant
- OMIM:602629 Dystonia 6, torsion
- OMIM:602124 Dystonia 7, torsion
- OMIM:611694 Dystonia with cerebellar atrophy
- OMIM:619681 Dystonia, early-onset, and/or spastic paraplegia
- OMIM:607371 Dystonia, juvenile-onset
- ORPHA:412217 Dystonia-aphonia syndrome
Disease code
Disease name
- ORPHA:256 Early-onset generalized limb-onset dystonia
- ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- OMIM:305100 Ectodermal dysplasia 1, hypohidrotic, X-linked
- ORPHA:1895 Edinburgh malformation syndrome
- OMIM:130080 Ehlers-Danlos syndrome, periodontal type, 1
- ORPHA:97214 Eisenmenger syndrome
- ORPHA:261 Emery-Dreifuss muscular dystrophy
- OMIM:131760 Epidermolysis bullosa simplex, Dowling-Meara type
- OMIM:616647 Epileptic encephalopathy, early infantile, 35
- ORPHA:1199 Esophageal atresia
- ORPHA:494424 Extracranial carotid artery aneurysm
Disease code
Disease name
- ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome
- ORPHA:53715 Familial tumoral calcinosis
- ORPHA:333 Farber disease
- OMIM:228000 Farber lipogranulomatosis
- OMIM:164280 Feingold syndrome 1
- OMIM:618388 Fetal akinesia deformation sequence 2
- ORPHA:1968 Flat face-microstomia-ear anomaly syndrome
- ORPHA:2044 Floating-Harbor syndrome
- ORPHA:83451 Florid cemento-osseous dysplasia
- ORPHA:2048 Foix-Chavany-Marie syndrome
- ORPHA:2053 Freeman-Sheldon syndrome
Disease code
Disease name
- OMIM:613163 GABA-transaminase deficiency
- ORPHA:352 Galactosemia
- OMIM:231050 Geleophysic dysplasia 1
- OMIM:617809 Geleophysic dysplasia 3
- ORPHA:411777 Generalized eruptive keratoacanthoma
- ORPHA:226316 Genetic transient congenital hypothyroidism
- ORPHA:221098 Glossopharyngeal neuralgia
- ORPHA:169105 Good syndrome
- ORPHA:181393 Growth hormone insensitivity syndrome
- OMIM:245590 Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- OMIM:612938 Growth retardation, developmental delay, coarse facies, and earlydeath
Disease code
Disease name
- OMIM:612946 Hadziselimovic syndrome
- ORPHA:100050 Hereditary angioedema type 1
- ORPHA:411602 Hereditary late-onset Parkinson disease
- OMIM:600361 Hereditary motor and sensory neuropathy V
- OMIM:601152 Hereditary motor and sensory neuropathy VI
- OMIM:606071 Hereditary motor and sensory neuropathy, type IIC
- ORPHA:640 Hereditary neuropathy with liability to pressure palsies
- ORPHA:29072 Hereditary pheochromocytoma-paraganglioma
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- OMIM:239350 Hyperphosphatemia, polyuria, and seizures
- ORPHA:79101 Hyperprolinemia type 2
- OMIM:241500 Hypophosphatasia, infantile
- ORPHA:90673 Hypothyroidism due to TSH receptor mutations
- OMIM:218700 Hypothyroidism, congenital, nongoitrous, 2
- OMIM:275100 Hypothyroidism, congenital, nongoitrous, 4
- OMIM:614450 Hypothyroidism, congenital, nongoitrous, 6
- OMIM:606407 Hypotonia-cystinuria syndrome
- ORPHA:163690 Hypotonia-cystinuria syndrome
Disease code
Disease name
- ORPHA:64744 IgG4-related thyroid disease
- OMIM:617744 Immunodeficiency, developmental delay, and hypohomocysteinemia
- OMIM:242900 Immunoosseous dysplasia, Schimke type
- ORPHA:178478 Infant botulism
- OMIM:270450 Insulin-Like growth factor I, resistance to
- OMIM:618608 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
- OMIM:612337 Intellectual developmental disorder, autosomal dominant 22
- OMIM:617799 Intellectual developmental disorder, autosomal dominant 54
- OMIM:618106 Intellectual developmental disorder, autosomal dominant 58
- OMIM:619988 Intellectual developmental disorder, autosomal recessive 77
- ORPHA:166108 Intellectual disability, Birk-Barel type
- ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
- ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome
- ORPHA:209908 Isolated childhood apraxia of speech
- ORPHA:199302 Isolated cleft lip
- ORPHA:90674 Isolated thyroid-stimulating hormone deficiency
Disease code
Disease name
Disease code
Disease name
- OMIM:147920 Kabuki syndrome 1
- ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- ORPHA:478 Kallmann syndrome
- ORPHA:2662 Keipert syndrome
- OMIM:127000 Kenny-caffey syndrome, type 2
- OMIM:245150 Keutel syndrome
- OMIM:610443 Koolen-De Vries syndrome
- ORPHA:96169 Koolen-De Vries syndrome
Disease code
Disease name
- ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy
- ORPHA:98818 Landau-Kleffner syndrome
- OMIM:262500 Laron syndrome
- ORPHA:633 Laron syndrome
- OMIM:150260 Laryngeal abductor paralysis
- ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome
- OMIM:150270 Laryngeal adductor paralysis
- ORPHA:100083 Laryngeal neuroendocrine tumor
- OMIM:150360 Laryngeal web, familial
- OMIM:245660 Laryngoonychocutaneous syndrome
- ORPHA:137935 Laryngotracheal angioma
- ORPHA:2004 Laryngotracheoesophageal cleft
- ORPHA:1202 Larynx atresia
- OMIM:130720 Lateral meningocele syndrome
- ORPHA:140936 Lelis syndrome
- OMIM:618681 Lessel-Kubisch syndrome
- OMIM:169500 Leukodystrophy, adult-onset, autosomal dominant
- OMIM:269700 Lipodystrophy, congenital generalized, type 2
- ORPHA:530 Lipoid proteinosis
- ORPHA:2406 Locked-in syndrome
- ORPHA:776 Lujan-Fryns syndrome
- OMIM:309520 Lujan-Fryns syndrome
Disease code
Disease name
- OMIM:613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
- ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- ORPHA:137867 Madras motor neuron disease
- ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome
- OMIM:615381 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- OMIM:619127 Mandibuloacral dysplasia progeroid syndrome
- ORPHA:511 Maple syrup urine disease
- ORPHA:559 Marinesco-Sjögren syndrome
- ORPHA:1332 Medullary thyroid carcinoma
- OMIM:613800 Meier-Gorlin syndrome 2
- OMIM:309350 Melnick-Needles syndrome
- OMIM:618050 Mental retardation, autosomal dominant 57
- OMIM:300143 Mental retardation, X-linked 21
- OMIM:300676 Mental retardation, X-linked, syndromic 14
- OMIM:300967 Mental retardation, X-linked, syndromic 34
- OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type
- OMIM:600383 Mesomelia-Synostoses syndrome
- ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II
- OMIM:210720 Microcephalic osteodysplastic primordial dwarfism, type II
- OMIM:210730 Microcephalic osteodysplastic primordial dwarfism, type III
- OMIM:616817 Microcephaly, short stature, and impaired glucose metabolism 2
- ORPHA:217377 Microduplication Xp11.22p11.23 syndrome
- OMIM:618222 Mitochondrial complex I deficiency, nuclear type 2
- OMIM:615157 Mitochondrial complex III deficiency, nuclear type 2
- OMIM:615228 Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
- OMIM:615084 Mitochondrial DNA depletion syndrome 11
- OMIM:616896 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
- ORPHA:255210 Mitochondrial DNA-associated Leigh syndrome
- OMIM:157900 Moebius syndrome
- ORPHA:570 Moebius syndrome
- ORPHA:281 Monosomy 5p
- ORPHA:575 Muckle-Wells syndrome
- OMIM:252500 Mucolipidosis II alpha/beta
- ORPHA:576 Mucolipidosis type II
- ORPHA:579 Mucopolysaccharidosis type 1
- ORPHA:581 Mucopolysaccharidosis type 3
- OMIM:253250 Mulibrey nanism
- ORPHA:2576 Mulibrey nanism
- ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- ORPHA:227510 Multiple system atrophy, cerebellar type
- ORPHA:588 Muscle-eye-brain disease
- OMIM:619518 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
- OMIM:254200 Myasthenia gravis
- OMIM:616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
- OMIM:608930 Myasthenic syndrome, congenital, 1B, fast-channel
- OMIM:617143 Myasthenic syndrome, congenital, 20, presynaptic
- OMIM:616313 Myasthenic syndrome, congenital, 2A, slow-channel
- OMIM:605809 Myasthenic syndrome, congenital, 4A, slow-channel
- OMIM:608931 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
- OMIM:603034 Myasthenic syndrome, congenital, 5
- OMIM:254210 Myasthenic syndrome, congenital, 6, presynaptic
- OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
- OMIM:139210 Myhre syndrome
- OMIM:619178 Myofibrillar myopathy 11
- OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
- OMIM:255200 Myopathy, centronuclear, 2
- OMIM:619967 Myopathy, congenital, nonprogressive
- OMIM:255310 Myopathy, congenital, with fiber-type disproportion
- OMIM:300580 Myopathy, congenital, with fiber-type disproportion, X-linked
- OMIM:612954 Myopathy, myofibrillar, 6
- OMIM:617258 Myopathy, myofibrillar, 8
- OMIM:613869 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related
- OMIM:182920 Myopathy, spheroid body
- ORPHA:99735 Myotonia permanens
- OMIM:255900 Myxedema
Disease code
Disease name
- OMIM:619259 Neurodegeneration with ataxia and late-onset optic atrophy
- OMIM:234200 Neurodegeneration with brain iron accumulation 1
- OMIM:606159 Neurodegeneration with brain iron accumulation 3
- OMIM:619383 Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
- OMIM:618492 Neurodevelopmental disorder with microcephaly and structural brain anomalies
- OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
- OMIM:618651 Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
- ORPHA:157846 Neuroferritinopathy
- OMIM:158580 Neuronopathy, distal hereditary motor, type VIIA
- OMIM:607641 Neuronopathy, distal hereditary motor, type VIIB
- OMIM:608088 Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux
- OMIM:614653 Neuropathy, hereditary sensory and autonomic, type VI
- OMIM:162500 Neuropathy, hereditary, with liability to pressure palsies
- ORPHA:646 Niemann-Pick disease type C
- ORPHA:94080 Non-functioning paraganglioma
- OMIM:619087 Noonan syndrome 13
- ORPHA:500 Noonan syndrome with multiple lentigines
- OMIM:607721 Noonan syndrome-like with loose anagen hair 1
- ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism
Disease code
Disease name
- ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- OMIM:619318 Oculogastrointestinal neurodevelopmental syndrome
- OMIM:164310 Oculopharyngodistal myopathy 1
- OMIM:619790 Oculopharyngodistal myopathy 4
- ORPHA:3164 Omphalocele syndrome, Shprintzen-Goldberg type
- OMIM:300000 Opitz GBBB syndrome
- OMIM:305450 Opitz-Kaveggia syndrome
- OMIM:616788 Orofacial cleft 15
- ORPHA:93958 Oromandibular dystonia
- OMIM:613848 Osteogenesis imperfecta, type X
- OMIM:300373 Osteopathia striata with cranial sclerosis
Disease code
Disease name
- ORPHA:2309 Pachyonychia congenita
- OMIM:167210 Pachyonychia congenita 2
- OMIM:167500 Palatopharyngeal incompetence
- OMIM:601803 Pallister-Killian syndrome
- ORPHA:157850 Pantothenate kinase-associated neurodegeneration
- OMIM:168000 Paragangliomas 1
- OMIM:601650 Paragangliomas 2
- OMIM:605373 Paragangliomas 3
- ORPHA:143 Parathyroid carcinoma
- OMIM:260300 Parkinson disease 15, autosomal recessive early-onset
- OMIM:615530 Parkinson disease 20, early-onset
- OMIM:168600 Parkinson disease, late-onset
- ORPHA:171695 Parkinsonian-pyramidal syndrome
- OMIM:618049 Parkinsonism-Dystonia, infantile, 2
- ORPHA:90797 Partial androgen insensitivity syndrome
- ORPHA:93126 Pauci-immune glomerulonephritis
- OMIM:614369 Peripheral neuropathy, myopathy, hoarseness, and hearing loss
- ORPHA:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- ORPHA:226292 Permanent congenital hypothyroidism
- OMIM:614886 Peroxisome biogenesis disorder 12A (Zellweger)
- OMIM:168605 Perry syndrome
- ORPHA:2871 Pfeiffer-Palm-Teller syndrome
- OMIM:613038 Pituitary hormone deficiency, combined, 1
- ORPHA:254361 Plectin-related limb-girdle muscular dystrophy R17
- ORPHA:2912 Poliomyelitis
- OMIM:300388 Polymicrogyria, bilateral perisylvian
- ORPHA:732 Polymyositis
- OMIM:618065 Pontocerebellar hypoplasia, type 1D
- ORPHA:279947 Postorgasmic illness syndrome
- OMIM:176270 Prader-Willi syndrome
- ORPHA:739 Prader-Willi syndrome
- ORPHA:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion
- ORPHA:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- ORPHA:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- ORPHA:177907 Prader-Willi syndrome due to translocation
- ORPHA:98914 Presynaptic congenital myasthenic syndromes
- ORPHA:2285 Primary basilar invagination
- ORPHA:98807 Primary dystonia, DYT13 type
- ORPHA:370103 Primary dystonia, DYT17 type
- ORPHA:306734 Primary dystonia, DYT21 type
- ORPHA:464440 Primary dystonia, DYT27 type
- ORPHA:98805 Primary dystonia, DYT4 type
- ORPHA:98806 Primary dystonia, DYT6 type
- OMIM:606353 Primary lateral sclerosis, juvenile
- ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- ORPHA:2959 Progeria-short stature-pigmented nevi syndrome
- OMIM:176690 Progeroid short stature with pigmented nevi
- OMIM:609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
- OMIM:613077 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- OMIM:617070 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
- OMIM:258450 Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive
- ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- ORPHA:240103 Progressive supranuclear palsy-corticobasal syndrome
- ORPHA:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
- ORPHA:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
- ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome
- ORPHA:261197 Proximal 16p11.2 microdeletion syndrome
- ORPHA:370079 Proximal 16p11.2 microduplication syndrome
- ORPHA:221120 Pseudoaminopterin syndrome
- ORPHA:79443 Pseudohypoparathyroidism type 1A
- ORPHA:94089 Pseudohypoparathyroidism type 1B
- ORPHA:79444 Pseudohypoparathyroidism type 1C
- ORPHA:94090 Pseudohypoparathyroidism type 2
- OMIM:264600 Pseudovaginal perineoscrotal hypospadias
- ORPHA:2997 Ptosis-vocal cord paralysis syndrome
- ORPHA:79096 Pyridoxal phosphate-responsive seizures
Disease code
Disease name
- ORPHA:770 Rabies
- ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy
- ORPHA:60032 Recurrent respiratory papillomatosis
- OMIM:309500 Renpenning syndrome
- ORPHA:99832 Resistance to thyrotropin-releasing hormone syndrome
- OMIM:618803 Respiratory papillomatosis, juvenile recurrent, congenital
- ORPHA:778 Rett syndrome
- ORPHA:3101 Richieri Costa-da Silva syndrome
- OMIM:602771 Rigid spine muscular dystrophy 1
- ORPHA:217335 RIN2 syndrome
- ORPHA:1449 Ring chromosome 7 syndrome
- ORPHA:1945 Rolandic epilepsy
- ORPHA:163721 Rolandic epilepsy-speech dyspraxia syndrome
- OMIM:268650 Rudiger syndrome
Disease code
Disease name
- OMIM:181405 Scapuloperoneal spinal muscular atrophy
- OMIM:615547 Schaaf-Yang syndrome
- ORPHA:798 Schinzel-Giedion syndrome
- ORPHA:800 Schwartz-Jampel syndrome
- OMIM:255800 Schwartz-jampel syndrome, type 1
- OMIM:606744 Seckel syndrome 2
- ORPHA:99857 Secondary syringomyelia
- OMIM:607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- ORPHA:314911 Severe Canavan disease
- ORPHA:79404 Severe generalized junctional epidermolysis bullosa
- OMIM:616541 Short stature, microcephaly, and endocrine dysfunction
- OMIM:614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
- OMIM:614800 Short stature, optic nerve atrophy, and pelger-huet anomaly
- OMIM:182210 Shprintzen omphalocele syndrome
- ORPHA:87876 Sialidosis type 2
- ORPHA:3166 Sialuria
- OMIM:300263 Siderius X-linked mental retardation syndrome
- ORPHA:813 Silver-Russell syndrome
- ORPHA:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- ORPHA:398079 SIM1-related Prader-Willi-like syndrome
- OMIM:182150 Simosa craniofacial syndrome
- ORPHA:373 Simpson-Golabi-Behmel syndrome
- ORPHA:819 Smith-Magenis syndrome
- OMIM:182290 Smith-Magenis syndrome
- ORPHA:449285 Snakebite envenomation
- ORPHA:314769 Somatomammotropinoma
- OMIM:616586 Spastic paraplegia 9B, autosomal recessive
- ORPHA:99013 Spastic paraplegia type 7
- OMIM:604320 Spinal muscular atrophy, distal, autosomal recessive, 1
- OMIM:614881 Spinal muscular atrophy, distal, autosomal recessive, 5
- OMIM:619042 Spinal muscular atrophy, infantile, James type
- ORPHA:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- OMIM:608687 Spinocerebellar ataxia 20
- OMIM:613908 Spinocerebellar ataxia 35
- ORPHA:101110 Spinocerebellar ataxia type 20
- ORPHA:98757 Spinocerebellar ataxia type 3
- ORPHA:276193 Spinocerebellar ataxia type 35
- OMIM:619422 Spinocerebellar ataxia, autosomal recessive 31
- ORPHA:93357 SPONASTRIME dysplasia
- ORPHA:171866 Spondyloepimetaphyseal dysplasia, aggrecan type
- OMIM:612813 Spondyloepimetaphyseal dysplasia, Aggrecan type
- OMIM:602557 Spondyloepimetaphyseal dysplasia, Shohat type
- ORPHA:93352 Spondyloepimetaphyseal dysplasia, Shohat type
- OMIM:611717 Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
- ORPHA:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
- ORPHA:276621 Sporadic pheochromocytoma/secreting paraganglioma
- ORPHA:99977 Squamous cell carcinoma of the esophagus
- OMIM:184450 Stuttering, familial persistent, 1
- OMIM:601559 Stuve-Wiedemann syndrome
- ORPHA:3191 Subaortic stenosis-short stature syndrome
- OMIM:608800 Sudden infant death with dysgenesis of the testes syndrome
- ORPHA:168593 Sudden infant death-dysgenesis of the testes syndrome
- ORPHA:1314 Symmetrical thalamic calcifications
- ORPHA:98915 Synaptic congenital myasthenic syndromes
Disease code
Disease name
- ORPHA:845 Tay-Sachs disease
- ORPHA:3309 Tetrasomy 5p
- OMIM:614458 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
- OMIM:249270 Thiamine-Responsive megaloblastic anemia syndrome
- ORPHA:99867 Thymoma
- ORPHA:97285 Thyroid lymphoma
- OMIM:275120 Thyrotropin-Releasing hormone deficiency
- ORPHA:3348 Tracheobronchopathia osteochondroplastica
- OMIM:189961 Tracheopathia osteoplastica
- OMIM:190350 Trichorhinophalangeal syndrome, type I
- ORPHA:33364 Trichothiodystrophy
Disease code
Disease name
Disease code
Disease name
- OMIM:601846 Vacuolar neuromyopathy
- OMIM:301030 Van Esch-O'Driscoll syndrome
- OMIM:192430 Velocardiofacial syndrome
- OMIM:600736 Velofacioskeletal syndrome
- OMIM:617660 Vertebral, cardiac, renal, and limb defects syndrome 1
- ORPHA:600 Vocal cord and pharyngeal distal myopathy
- OMIM:193240 Vocal cord paralysis and ptosis
Disease code
Disease name
Disease code
Disease name
- ORPHA:98863 X-linked Emery-Dreifuss muscular dystrophy
- ORPHA:93952 X-linked intellectual disability, Hedera type
- ORPHA:3063 X-linked intellectual disability, Snyder type
- ORPHA:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
- OMIM:610965 XFE progeroid syndrome
- ORPHA:284180 Xp22.13p22.2 duplication syndrome
- ORPHA:521258 Xq25 microduplication syndrome
- ORPHA:261483 Xq27.3q28 duplication syndrome
Disease code
Disease name
Associated genes:
- #
- 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
Gene name
Gene name
Gene name
Gene name
Gene name
Gene name
Gene name
Gene name
Gene name
Gene name
Gene name
Gene name
- SAMHD1
- SBF2
- SCN4A
- SDHA
- SDHAF2
- SDHB
- SDHC
- SDHD
- SEC24C
- SEC24D
- SEC31A
- SELENON
- SEMA3A
- SEMA5A
- SERPING1
- SERPINH1
- SET
- SETBP1
- SH2B1
- SH3BP2
- SH3TC2
- SHOC2
- SHQ1
- SIL1
- SIM1
- SLC18A2
- SLC18A3
- SLC19A2
- SLC25A1
- SLC25A11
- SLC26A2
- SLC2A3
- SLC3A1
- SLC52A3
- SLC5A7
- SMAD4
- SMARCAL1
- SMC1A
- SMC3
- SMS
- SNAP25
- SNCA
- SNCAIP
- SNORD115-1
- SNORD116-1
- SNRPB
- SNRPN
- SOD1
- SOX10
- SPART
- SPEG
- SPG7
- SPRY4
- SPTBN1
- SRCAP
- SRD5A2
- SRPX2
- STAG2
- STAT5B
- STX16
- STX1A
- SUZ12
- SYNE1
- SYNE2
- SYNJ1
- SYT2
Gene name
Gene name
International Division
Monday-Friday : 8h30 - 18h30
T. : +33 4 72 80 23 85
Contact by email
T. : +33 4 72 80 23 85
Contact by email