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Abnormality of the voice
Code Aire thérapeutique (HPO) :
HP:0001608Panel par pathologie associée :
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Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
Code pathologie
Nom de la pathologie
- 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
Code pathologie
Nom de la pathologie
Gènes associés :
- #
- A
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- F
- G
- H
- I
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- L
- M
- N
- O
- P
- Q
- R
- S
- T
- U
- V
- W
- X
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Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
Nom du gène
- 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
Nom du gène
Nom du gène
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