Orphanet classification: Rare otorhinolaryngologic disease (ORPHA:98036)
Disorder type: Category
Subcategories and diseases:
Name: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
OrphaCode: 504476
DisorderType: Disease
Name: Familial nasal acilia
OrphaCode: 922
DisorderType: Disease
Name: Cogan syndrome
OrphaCode: 1467
DisorderType: Disease
Name: Rare deafness
OrphaCode: 68361
DisorderType: Category
Children: Name: Syndromic genetic deafness
OrphaCode: 90642
DisorderType: Category
Children: Name: Duane retraction syndrome with congenital deafness
OrphaCode: 529574
DisorderType: Malformation syndrome
Name: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
OrphaCode: 508476
DisorderType: Malformation syndrome
Name: Congenital vertebral-cardiac-renal anomalies syndrome
OrphaCode: 521438
DisorderType: Malformation syndrome
Name: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
OrphaCode: 521445
DisorderType: Malformation syndrome
Name: 1p35.2 microdeletion syndrome
OrphaCode: 456298
DisorderType: Malformation syndrome
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: H syndrome
OrphaCode: 168569
DisorderType: Malformation syndrome
Name: Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
OrphaCode: 171848
DisorderType: Disease
Name: MEDNIK syndrome
OrphaCode: 171851
DisorderType: Disease
Name: EAST syndrome
OrphaCode: 199343
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
OrphaCode: 228012
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OrphaCode: 280406
DisorderType: Disease
Name: Dysmorphism-conductive hearing loss-heart defect syndrome
OrphaCode: 289553
DisorderType: Malformation syndrome
Name: Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
OrphaCode: 293958
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Connective tissue disorder due to lysyl hydroxylase-3 deficiency
OrphaCode: 300284
DisorderType: Disease
Name: Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
OrphaCode: 300333
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
OrphaCode: 314404
DisorderType: Disease
Name: Chudley-McCullough syndrome
OrphaCode: 314597
DisorderType: Malformation syndrome
Name: Sinoatrial node dysfunction and deafness
OrphaCode: 324321
DisorderType: Disease
Name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
OrphaCode: 329336
DisorderType: Disease
Name: Hypotrichosis-deafness syndrome
OrphaCode: 330029
DisorderType: Disease
Name: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
OrphaCode: 330054
DisorderType: Disease
Name: MEGDEL syndrome
OrphaCode: 352328
DisorderType: Disease
Name: High myopia-sensorineural deafness syndrome
OrphaCode: 363396
DisorderType: Disease
Name: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
OrphaCode: 363649
DisorderType: Disease
Name: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
OrphaCode: 369939
DisorderType: Malformation syndrome
Name: Congenital disorder of glycosylation with deafness as a major feature
OrphaCode: 371212
DisorderType: Category
Children: Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
OrphaCode: 397744
DisorderType: Disease
Name: Autosomal recessive distal renal tubular acidosis
OrphaCode: 402041
DisorderType: Clinical subtype
Name: Wolfram-like syndrome
OrphaCode: 411590
DisorderType: Disease
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
OrphaCode: 440354
DisorderType: Malformation syndrome
Name: Hyperostosis cranialis interna
OrphaCode: 443098
DisorderType: Disease
Name: Mandibulofacial dysostosis with alopecia
OrphaCode: 443995
DisorderType: Malformation syndrome
Name: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
OrphaCode: 445062
DisorderType: Disease
Name: Progressive autosomal recessive ataxia-deafness syndrome
OrphaCode: 448251
DisorderType: Disease
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Full NF2-related schwannomatosis
OrphaCode: 637
DisorderType: Disease
Name: Norrie disease
OrphaCode: 649
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Albinism-deafness syndrome
OrphaCode: 998
DisorderType: Malformation syndrome
Name: Ermine phenotype
OrphaCode: 999
DisorderType: Malformation syndrome
Name: Ocular albinism with late-onset sensorineural deafness
OrphaCode: 1000
DisorderType: Disease
Name: Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
OrphaCode: 3085
DisorderType: Malformation syndrome
Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Pendred syndrome
OrphaCode: 705
DisorderType: Malformation syndrome
Name: Alport syndrome
OrphaCode: 63
DisorderType: Disease
Children: Name: X-linked Alport syndrome
OrphaCode: 88917
DisorderType: Clinical subtype
Name: Autosomal dominant Alport syndrome
OrphaCode: 88918
DisorderType: Clinical subtype
Name: Autosomal recessive Alport syndrome
OrphaCode: 88919
DisorderType: Clinical subtype
Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: Digenic Alport syndrome
OrphaCode: 653722
DisorderType: Clinical subtype
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Usher syndrome
OrphaCode: 886
DisorderType: Disease
Children: Name: Usher syndrome type 3
OrphaCode: 231183
DisorderType: Clinical subtype
Name: Usher syndrome type 1
OrphaCode: 231169
DisorderType: Clinical subtype
Name: Usher syndrome type 2
OrphaCode: 231178
DisorderType: Clinical subtype
Name: Waardenburg syndrome
OrphaCode: 3440
DisorderType: Disease
Children: Name: Waardenburg syndrome type 1
OrphaCode: 894
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 2
OrphaCode: 895
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 3
OrphaCode: 896
DisorderType: Clinical subtype
Name: Wolfram syndrome
OrphaCode: 3463
DisorderType: Disease
Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Waardenburg-Shah syndrome
OrphaCode: 897
DisorderType: Disease
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Mitochondrial myopathy-lactic acidosis-deafness syndrome
OrphaCode: 2597
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
OrphaCode: 1144
DisorderType: Malformation syndrome
Name: Lethal ataxia with deafness and optic atrophy
OrphaCode: 1187
DisorderType: Disease
Name: Ataxia-deafness-intellectual disability syndrome
OrphaCode: 1188
DisorderType: Malformation syndrome
Name: Burn-McKeown syndrome
OrphaCode: 1200
DisorderType: Malformation syndrome
Name: Maxillonasal dysplasia
OrphaCode: 1248
DisorderType: Malformation syndrome
Name: Cataract-ataxia-deafness syndrome
OrphaCode: 1368
DisorderType: Disease
Name: Richards-Rundle syndrome
OrphaCode: 1399
DisorderType: Malformation syndrome
Name: Xq21 microdeletion syndrome
OrphaCode: 1435
DisorderType: Malformation syndrome
Name: Corneal dystrophy-perceptive deafness syndrome
OrphaCode: 1490
DisorderType: Malformation syndrome
Name: Craniofacial-deafness-hand syndrome
OrphaCode: 1529
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-sensorineural deafness syndrome
OrphaCode: 1883
DisorderType: Malformation syndrome
Name: Cleft lip/palate-deafness-sacral lipoma syndrome
OrphaCode: 2003
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-progressive deafness syndrome
OrphaCode: 2027
DisorderType: Malformation syndrome
Name: Hirschsprung disease-deafness-polydactyly syndrome
OrphaCode: 2155
DisorderType: Malformation syndrome
Name: Palmoplantar keratoderma-deafness syndrome
OrphaCode: 2202
DisorderType: Disease
Name: Ramos-Arroyo syndrome
OrphaCode: 1051
DisorderType: Malformation syndrome
Name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OrphaCode: 2237
DisorderType: Malformation syndrome
Name: Keratoderma hereditarium mutilans
OrphaCode: 494
DisorderType: Disease
Name: Thickened earlobes-conductive deafness syndrome
OrphaCode: 2405
DisorderType: Malformation syndrome
Name: Lowe-Kohn-Cohen syndrome
OrphaCode: 2408
DisorderType: Malformation syndrome
Name: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
OrphaCode: 2502
DisorderType: Malformation syndrome
Name: Conductive deafness-malformed external ear syndrome
OrphaCode: 3216
DisorderType: Malformation syndrome
Name: RNF13-related severe early-onset epileptic encephalopathy
OrphaCode: 544503
DisorderType: Disease
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
OrphaCode: 500144
DisorderType: Malformation syndrome
Name: Mitchell Syndrome
OrphaCode: 631248
DisorderType: Disease
Name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
OrphaCode: 457351
DisorderType: Malformation syndrome
Name: Gemignani syndrome
OrphaCode: 2074
DisorderType: Malformation syndrome
Name: Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
OrphaCode: 457223
DisorderType: Disease
Name: Nathalie syndrome
OrphaCode: 2663
DisorderType: Malformation syndrome
Name: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
OrphaCode: 231720
DisorderType: Malformation syndrome
Name: MYH9-related disease
OrphaCode: 182050
DisorderType: Disease
Name: Microcephaly-deafness-intellectual disability syndrome
OrphaCode: 2533
DisorderType: Malformation syndrome
Name: Myoclonus-cerebellar ataxia-deafness syndrome
OrphaCode: 2589
DisorderType: Malformation syndrome
Name: N syndrome
OrphaCode: 2608
DisorderType: Malformation syndrome
Name: Nephropathy-deafness-hyperparathyroidism syndrome
OrphaCode: 2668
DisorderType: Malformation syndrome
Name: Nephrosis-deafness-urinary tract-digital malformations syndrome
OrphaCode: 2669
DisorderType: Malformation syndrome
Name: Neutropenia-monocytopenia-deafness syndrome
OrphaCode: 2690
DisorderType: Disease
Name: Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
OrphaCode: 2698
DisorderType: Disease
Name: Olivopontocerebellar atrophy-deafness syndrome
OrphaCode: 2732
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Spastic paraparesis-deafness syndrome
OrphaCode: 2815
DisorderType: Malformation syndrome
Name: Spastic paraplegia-nephritis-deafness syndrome
OrphaCode: 2820
DisorderType: Clinical syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
OrphaCode: 2866
DisorderType: Malformation syndrome
Name: Deaf blind hypopigmentation syndrome, Yemenite type
OrphaCode: 3214
DisorderType: Malformation syndrome
Name: Deafness-small bowel diverticulosis-neuropathy syndrome
OrphaCode: 3217
DisorderType: Disease
Name: Deafness-epiphyseal dysplasia-short stature syndrome
OrphaCode: 3218
DisorderType: Malformation syndrome
Name: Fountain syndrome
OrphaCode: 3219
DisorderType: Malformation syndrome
Name: Deafness-enamel hypoplasia-nail defects syndrome
OrphaCode: 3220
DisorderType: Malformation syndrome
Name: Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
OrphaCode: 3224
DisorderType: Malformation syndrome
Name: Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
OrphaCode: 3225
DisorderType: Malformation syndrome
Name: Deafness-oligodontia syndrome
OrphaCode: 3230
DisorderType: Malformation syndrome
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: Deafness-ear malformation-facial palsy syndrome
OrphaCode: 3232
DisorderType: Malformation syndrome
Name: Cochleosaccular degeneration-cataract syndrome
OrphaCode: 3233
DisorderType: Malformation syndrome
Name: Progressive deafness with stapes fixation
OrphaCode: 3235
DisorderType: Malformation syndrome
Name: Multiple synostoses syndrome
OrphaCode: 3237
DisorderType: Malformation syndrome
Name: Cardiospondylocarpofacial syndrome
OrphaCode: 3238
DisorderType: Malformation syndrome
Name: Deafness-vitiligo-achalasia syndrome
OrphaCode: 3239
DisorderType: Malformation syndrome
Name: Deafness-craniofacial syndrome
OrphaCode: 3241
DisorderType: Malformation syndrome
Name: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
OrphaCode: 1192
DisorderType: Malformation syndrome
Name: Cataract-deafness-hypogonadism syndrome
OrphaCode: 1383
DisorderType: Malformation syndrome
Name: Caudal appendage-deafness syndrome
OrphaCode: 1123
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
OrphaCode: 1171
DisorderType: Disease
Name: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
OrphaCode: 3240
DisorderType: Disease
Name: Tietz syndrome
OrphaCode: 42665
DisorderType: Malformation syndrome
Name: Thiamine-responsive megaloblastic anemia syndrome
OrphaCode: 49827
DisorderType: Disease
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Branchiogenic deafness syndrome
OrphaCode: 50815
DisorderType: Malformation syndrome
Name: Mohr-Tranebjaerg syndrome
OrphaCode: 52368
DisorderType: Disease
Name: Branchiootic syndrome
OrphaCode: 52429
DisorderType: Malformation syndrome
Name: X-linked Charcot-Marie-Tooth disease
OrphaCode: 64747
DisorderType: Clinical group
Children: Name: X-linked Charcot-Marie-Tooth disease type 5
OrphaCode: 99014
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 1
OrphaCode: 101075
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 2
OrphaCode: 101076
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 3
OrphaCode: 101077
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 4
OrphaCode: 101078
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 6
OrphaCode: 352675
DisorderType: Disease
Name: Sensorineural hearing loss-early graying-essential tremor syndrome
OrphaCode: 66633
DisorderType: Disease
Name: Bosley-Salih-Alorainy syndrome
OrphaCode: 69737
DisorderType: Malformation syndrome
Name: Athabaskan brainstem dysgenesis syndrome
OrphaCode: 69739
DisorderType: Disease
Name: Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
OrphaCode: 71267
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: Developmental malformations-deafness-dystonia syndrome
OrphaCode: 79107
DisorderType: Malformation syndrome
Name: Deafness-intellectual disability syndrome, Martin-Probst type
OrphaCode: 85321
DisorderType: Malformation syndrome
Name: Bartter syndrome type 4
OrphaCode: 89938
DisorderType: Clinical subtype
Name: Deafness with labyrinthine aplasia, microtia, and microdontia
OrphaCode: 90024
DisorderType: Malformation syndrome
Name: Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
OrphaCode: 90103
DisorderType: Malformation syndrome
Name: Deafness-hypogonadism syndrome
OrphaCode: 90646
DisorderType: Malformation syndrome
Name: Jervell and Lange-Nielsen syndrome
OrphaCode: 90647
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1E
OrphaCode: 90658
DisorderType: Disease
Name: Deafness-infertility syndrome
OrphaCode: 94064
DisorderType: Malformation syndrome
Name: Riboflavin transporter deficiency
OrphaCode: 97229
DisorderType: Malformation syndrome
Children: Name: RFVT2-related riboflavin transporter deficiency
OrphaCode: 572543
DisorderType: Clinical subtype
Name: RFVT3-related riboflavin transporter deficiency
OrphaCode: 572550
DisorderType: Clinical subtype
Name: Neuropathy with hearing impairment
OrphaCode: 139512
DisorderType: Disease
Name: Stapes ankylosis with broad thumbs and toes
OrphaCode: 140917
DisorderType: Malformation syndrome
Name: Bilateral microtia-deafness-cleft palate syndrome
OrphaCode: 140963
DisorderType: Malformation syndrome
Name: Renal caliceal diverticuli-deafness syndrome
OrphaCode: 2838
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia, MacDermot type
OrphaCode: 163668
DisorderType: Malformation syndrome
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
OrphaCode: 500188
DisorderType: Malformation syndrome
Name: Combined oxidative phosphorylation defect type 25
OrphaCode: 447954
DisorderType: Disease
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Hereditary sensory neuropathy-deafness-dementia syndrome
OrphaCode: 456318
DisorderType: Disease
Name: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
OrphaCode: 494439
DisorderType: Malformation syndrome
Name: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
OrphaCode: 494444
DisorderType: Disease
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Auditory neuropathy-optic atrophy syndrome
OrphaCode: 542585
DisorderType: Disease
Name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
OrphaCode: 543470
DisorderType: Disease
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
OrphaCode: 633014
DisorderType: Disease
Children: Name: SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
OrphaCode: 633021
DisorderType: Clinical subtype
Name: SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
OrphaCode: 633024
DisorderType: Clinical subtype
Name: Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
OrphaCode: 659975
DisorderType: Malformation syndrome
Name: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662179
DisorderType: Malformation syndrome
Name: Adult-onset progressive leukoencephalopathy-early-onset deafness
OrphaCode: 652532
DisorderType: Disease
Name: PBX1-related congenital anomalies of kidney and urinary tract syndrome
OrphaCode: 656130
DisorderType: Disease
Name: Sudden sensorineural hearing loss
OrphaCode: 90059
DisorderType: Particular clinical situation in a disease or syndrome
Name: Non-syndromic genetic deafness
OrphaCode: 87884
DisorderType: Disease
Children: Name: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
OrphaCode: 90636
DisorderType: Etiological subtype
Name: Rare mitochondrial non-syndromic sensorineural deafness
OrphaCode: 90641
DisorderType: Etiological subtype
Name: Rare X-linked non-syndromic sensorineural deafness type DFN
OrphaCode: 90625
DisorderType: Etiological subtype
Name: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
OrphaCode: 90635
DisorderType: Etiological subtype
Name: Silent sinus syndrome
OrphaCode: 71276
DisorderType: Disease
Name: Isolated congenital anosmia
OrphaCode: 88620
DisorderType: Disease
Name: Rare otorhinolaryngological malformation
OrphaCode: 96333
DisorderType: Category
Children: Name: Cysts and fistulae of the face and oral cavity
OrphaCode: 155835
DisorderType: Category
Children: Name: Familial thyroglossal duct cyst
OrphaCode: 93953
DisorderType: Morphological anomaly
Name: First branchial cleft anomaly
OrphaCode: 141013
DisorderType: Morphological anomaly
Name: Second branchial cleft anomaly
OrphaCode: 141022
DisorderType: Morphological anomaly
Name: Third branchial cleft anomaly
OrphaCode: 141030
DisorderType: Morphological anomaly
Name: Fourth branchial cleft anomaly
OrphaCode: 141037
DisorderType: Morphological anomaly
Name: Cervical dermoid cyst
OrphaCode: 141046
DisorderType: Morphological anomaly
Name: Facial dermoid cyst
OrphaCode: 141051
DisorderType: Morphological anomaly
Name: Commissural lip fistula
OrphaCode: 141061
DisorderType: Morphological anomaly
Name: Lower lip fistula
OrphaCode: 141064
DisorderType: Morphological anomaly
Name: Cervicofacial fibrochondroma
OrphaCode: 141067
DisorderType: Morphological anomaly
Name: Digestive duplication cyst of the tongue
OrphaCode: 141071
DisorderType: Morphological anomaly
Name: Nasal dermoid cyst
OrphaCode: 141103
DisorderType: Morphological anomaly
Name: Nasal dorsum fistula
OrphaCode: 141219
DisorderType: Morphological anomaly
Name: Pinnae fistula or cyst
OrphaCode: 155838
DisorderType: Morphological anomaly
Name: Otomandibular dysplasia
OrphaCode: 155896
DisorderType: Category
Children: Name: Auriculocondylar syndrome
OrphaCode: 137888
DisorderType: Malformation syndrome
Name: Oculo-auriculo-vertebral spectrum
OrphaCode: 141132
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis
OrphaCode: 155899
DisorderType: Clinical group
Children: Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Mandibulofacial dysostosis with alopecia
OrphaCode: 443995
DisorderType: Malformation syndrome
Name: Otomandibular dysplasia associated with monogenic syndromes
OrphaCode: 156202
DisorderType: Category
Children: Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: Pinnae and external auditory canal anomaly
OrphaCode: 156243
DisorderType: Category
Children: Name: Microtia
OrphaCode: 83463
DisorderType: Morphological anomaly
Name: Anotia
OrphaCode: 93976
DisorderType: Morphological anomaly
Name: External auditory canal aplasia/hypoplasia
OrphaCode: 141074
DisorderType: Morphological anomaly
Name: External auditory canal atresia-vertical talus-hypertelorism syndrome
OrphaCode: 3023
DisorderType: Malformation syndrome
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
OrphaCode: 500188
DisorderType: Malformation syndrome
Name: Nose and cavum anomaly
OrphaCode: 156246
DisorderType: Category
Children: Name: Lymphedema-posterior choanal atresia syndrome
OrphaCode: 99141
DisorderType: Malformation syndrome
Name: Arrhinia-choanal atresia-microphthalmia syndrome
OrphaCode: 1135
DisorderType: Malformation syndrome
Name: Burn-McKeown syndrome
OrphaCode: 1200
DisorderType: Malformation syndrome
Name: Blepharonasofacial malformation syndrome
OrphaCode: 1252
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Bifid nose
OrphaCode: 2695
DisorderType: Malformation syndrome
Name: Radial ray hypoplasia-choanal atresia syndrome
OrphaCode: 3026
DisorderType: Malformation syndrome
Name: Isolated arrhinia
OrphaCode: 1134
DisorderType: Malformation syndrome
Name: Intractable diarrhea-choanal atresia-eye anomalies syndrome
OrphaCode: 137622
DisorderType: Malformation syndrome
Name: Choanal atresia
OrphaCode: 137914
DisorderType: Morphological anomaly
Children: Name: Choanal atresia, unilateral
OrphaCode: 137917
DisorderType: Clinical subtype
Name: Choanal atresia, bilateral
OrphaCode: 137920
DisorderType: Clinical subtype
Name: Nasolacrimal duct cyst
OrphaCode: 141083
DisorderType: Morphological anomaly
Name: Polyrrhinia
OrphaCode: 141091
DisorderType: Malformation syndrome
Name: Supernumerary nostril
OrphaCode: 141096
DisorderType: Malformation syndrome
Name: Proboscis lateralis
OrphaCode: 141099
DisorderType: Malformation syndrome
Name: Nasal glial heterotopia
OrphaCode: 141112
DisorderType: Disease
Name: Nasal encephalocele
OrphaCode: 141118
DisorderType: Clinical subtype
Name: Craniorhiny
OrphaCode: 157832
DisorderType: Malformation syndrome
Name: Isolated congenital nasal pyriform aperture stenosis
OrphaCode: 162516
DisorderType: Malformation syndrome
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: Supratip dysplasia
OrphaCode: 466695
DisorderType: Morphological anomaly
Name: Familial congenital nasolacrimal duct obstruction
OrphaCode: 451612
DisorderType: Morphological anomaly
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Larynx anomaly
OrphaCode: 156249
DisorderType: Category
Children: Name: Congenital laryngomalacia
OrphaCode: 2373
DisorderType: Malformation syndrome
Name: Isolated congenital laryngeal web
OrphaCode: 2374
DisorderType: Malformation syndrome
Name: Larynx atresia
OrphaCode: 1202
DisorderType: Malformation syndrome
Name: Laryngocele
OrphaCode: 2372
DisorderType: Malformation syndrome
Name: Laryngotracheoesophageal cleft
OrphaCode: 2004
DisorderType: Morphological anomaly
Children: Name: Laryngotracheoesophageal cleft type 1
OrphaCode: 93938
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 2
OrphaCode: 93939
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 3
OrphaCode: 93940
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 4
OrphaCode: 93941
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 0
OrphaCode: 280205
DisorderType: Clinical subtype
Name: Congenital velopharyngeal incompetence
OrphaCode: 2291
DisorderType: Morphological anomaly
Name: Laryngeal abductor paralysis
OrphaCode: 2808
DisorderType: Malformation syndrome
Name: Primary laryngeal lymphangioma
OrphaCode: 137926
DisorderType: Malformation syndrome
Name: Congenital laryngeal palsy
OrphaCode: 137932
DisorderType: Malformation syndrome
Name: Airway infantile hemangioma
OrphaCode: 137935
DisorderType: Disease
Name: Congenital subglottic stenosis
OrphaCode: 141121
DisorderType: Malformation syndrome
Name: Congenital laryngeal cyst
OrphaCode: 141124
DisorderType: Morphological anomaly
Name: Tracheal anomaly
OrphaCode: 156252
DisorderType: Category
Children: Name: Tracheal agenesis
OrphaCode: 3346
DisorderType: Morphological anomaly
Name: Congenital tracheomalacia
OrphaCode: 95430
DisorderType: Morphological anomaly
Name: Congenital tracheal stenosis
OrphaCode: 141127
DisorderType: Morphological anomaly
Name: Middle and/or inner ear anomaly
OrphaCode: 164004
DisorderType: Category
Children: Name: Cochlear nerve deficiency
OrphaCode: 502318
DisorderType: Morphological anomaly
Name: Cochleovestibular malformation
OrphaCode: 502305
DisorderType: Morphological anomaly
Name: Isolated congenital auditory ossicle malformation
OrphaCode: 162526
DisorderType: Morphological anomaly
Name: Rare otorhinolaryngologic tumor
OrphaCode: 98061
DisorderType: Category
Children: Name: Squamous cell carcinoma of the oropharynx
OrphaCode: 500478
DisorderType: Disease
Name: Squamous cell carcinoma of oral cavity and lip
OrphaCode: 502369
DisorderType: Category
Children: Name: Squamous cell carcinoma of the oral cavity
OrphaCode: 502363
DisorderType: Disease
Name: Squamous cell carcinoma of the lip
OrphaCode: 502366
DisorderType: Disease
Name: Squamous cell carcinoma of the nasal cavity and paranasal sinuses
OrphaCode: 500464
DisorderType: Disease
Name: Nasopharyngeal carcinoma
OrphaCode: 150
DisorderType: Disease
Name: Laryngeal neuroendocrine tumor
OrphaCode: 100083
DisorderType: Disease
Name: Middle ear neuroendocrine tumor
OrphaCode: 100084
DisorderType: Disease
Name: Epignathus
OrphaCode: 141077
DisorderType: Clinical subtype
Name: Nasopharyngeal teratoma
OrphaCode: 141107
DisorderType: Clinical subtype
Name: Nasal glial heterotopia
OrphaCode: 141112
DisorderType: Disease
Name: Nasal ganglioglioma
OrphaCode: 141115
DisorderType: Disease
Name: Juvenile nasopharyngeal angiofibroma
OrphaCode: 289596
DisorderType: Disease
Name: Squamous cell carcinoma of the hypopharynx
OrphaCode: 494547
DisorderType: Disease
Name: Squamous cell carcinoma of the larynx
OrphaCode: 494550
DisorderType: Disease
Name: Vestibular schwannoma
OrphaCode: 252175
DisorderType: Clinical subtype
Name: Syndrome or malformation associated with head and neck malformations
OrphaCode: 156237
DisorderType: Category
Children: Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Monosomy 18q
OrphaCode: 1600
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Isolated Pierre Robin syndrome
OrphaCode: 718
DisorderType: Malformation syndrome
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Van der Woude syndrome
OrphaCode: 888
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Arthrogryposis multiplex congenita-whistling face syndrome
OrphaCode: 1150
DisorderType: Malformation syndrome
Name: Maxillonasal dysplasia
OrphaCode: 1248
DisorderType: Malformation syndrome
Name: CHAND syndrome
OrphaCode: 1401
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Multiple pterygium-malignant hyperthermia syndrome
OrphaCode: 2215
DisorderType: Malformation syndrome
Name: Marden-Walker syndrome
OrphaCode: 2461
DisorderType: Malformation syndrome
Name: Adducted thumbs-arthrogryposis syndrome, Christian type
OrphaCode: 2952
DisorderType: Malformation syndrome
Name: Van den Ende-Gupta syndrome
OrphaCode: 2460
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Isolated ankyloblepharon filiforme adnatum
OrphaCode: 91397
DisorderType: Morphological anomaly
Name: Rare disease with Pierre Robin syndrome
OrphaCode: 138044
DisorderType: Category
Children: Name: TARP syndrome
OrphaCode: 2886
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with collagen disease
OrphaCode: 138041
DisorderType: Category
Children: Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Kniest dysplasia
OrphaCode: 485
DisorderType: Disease
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with a chromosomal anomaly
OrphaCode: 138047
DisorderType: Category
Children: Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Contractures-developmental delay-Pierre Robin syndrome
OrphaCode: 436003
DisorderType: Malformation syndrome
Name: 21q22.11q22.12 microdeletion syndrome
OrphaCode: 261323
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with branchial archs anomalies
OrphaCode: 138050
DisorderType: Category
Children: Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with bone disease
OrphaCode: 138055
DisorderType: Category
Children: Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Atelosteogenesis type I
OrphaCode: 1190
DisorderType: Malformation syndrome
Name: Atelosteogenesis type II
OrphaCode: 56304
DisorderType: Malformation syndrome
Name: Atelosteogenesis type III
OrphaCode: 56305
DisorderType: Malformation syndrome
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Teratogenic Pierre Robin syndrome
OrphaCode: 138059
DisorderType: Category
Children: Name: Phenobarbital embryopathy
OrphaCode: 1919
DisorderType: Malformation syndrome
Name: Toluene embryopathy
OrphaCode: 1920
DisorderType: Malformation syndrome
Name: Methimazole embryofetopathy
OrphaCode: 1923
DisorderType: Malformation syndrome
Name: Diabetic embryopathy
OrphaCode: 1926
DisorderType: Malformation syndrome
Name: Maternal phenylketonuria
OrphaCode: 2209
DisorderType: Malformation syndrome
Name: Maternal hyperthermia-induced birth defects
OrphaCode: 2216
DisorderType: Malformation syndrome
Name: Isotretinoin syndrome
OrphaCode: 2305
DisorderType: Malformation syndrome
Name: Fetal alcohol syndrome
OrphaCode: 1915
DisorderType: Malformation syndrome
Name: Fetal parvovirus syndrome
OrphaCode: 295
DisorderType: Malformation syndrome
Name: Fetal valproate spectrum disorder
OrphaCode: 1906
DisorderType: Malformation syndrome
Name: Aminopterin/methotrexate embryofetopathy
OrphaCode: 1908
DisorderType: Malformation syndrome
Name: Indomethacin embryofetopathy
OrphaCode: 1909
DisorderType: Malformation syndrome
Name: Fetal iodine syndrome
OrphaCode: 1910
DisorderType: Malformation syndrome
Name: Cocaine embryofetopathy
OrphaCode: 1911
DisorderType: Malformation syndrome
Name: Fetal minoxidil syndrome
OrphaCode: 1918
DisorderType: Malformation syndrome
Name: Fetal hydantoin syndrome
OrphaCode: 1912
DisorderType: Malformation syndrome
Name: Fetal trimethadione syndrome
OrphaCode: 1913
DisorderType: Malformation syndrome
Name: Vitamin K antagonist embryofetopathy
OrphaCode: 1914
DisorderType: Malformation syndrome
Name: Fetal methylmercury syndrome
OrphaCode: 1917
DisorderType: Malformation syndrome
Name: Propylthiouracil embryofetopathy
OrphaCode: 485358
DisorderType: Malformation syndrome
Name: Intellectual disability-brachydactyly-Pierre Robin syndrome
OrphaCode: 364577
DisorderType: Malformation syndrome
Name: Orofacial clefting syndrome
OrphaCode: 139039
DisorderType: Category
Children: Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Diamond-Blackfan anemia
OrphaCode: 124
DisorderType: Disease
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Uveal coloboma-cleft lip and palate-intellectual disability
OrphaCode: 1473
DisorderType: Malformation syndrome
Name: Carey-Fineman-Ziter syndrome
OrphaCode: 1358
DisorderType: Malformation syndrome
Name: Aase-Smith syndrome
OrphaCode: 916
DisorderType: Malformation syndrome
Name: Ablepharon macrostomia syndrome
OrphaCode: 920
DisorderType: Malformation syndrome
Name: Abruzzo-Erickson syndrome
OrphaCode: 921
DisorderType: Malformation syndrome
Name: Bamforth-Lazarus syndrome
OrphaCode: 1226
DisorderType: Malformation syndrome
Name: Bencze syndrome
OrphaCode: 1241
DisorderType: Malformation syndrome
Name: Branchio-oculo-facial syndrome
OrphaCode: 1297
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Contractures-ectodermal dysplasia-cleft lip/palate syndrome
OrphaCode: 1484
DisorderType: Malformation syndrome
Name: Crane-Heise syndrome
OrphaCode: 1512
DisorderType: Malformation syndrome
Name: Femoral-facial syndrome
OrphaCode: 1988
DisorderType: Malformation syndrome
Name: Pai syndrome
OrphaCode: 1993
DisorderType: Malformation syndrome
Name: Cleft lip-retinopathy syndrome
OrphaCode: 1995
DisorderType: Malformation syndrome
Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
OrphaCode: 2001
DisorderType: Malformation syndrome
Name: Cleft lip/palate-deafness-sacral lipoma syndrome
OrphaCode: 2003
DisorderType: Malformation syndrome
Name: Acrocardiofacial syndrome
OrphaCode: 2008
DisorderType: Malformation syndrome
Name: Cleft palate-large ears-small head syndrome
OrphaCode: 2013
DisorderType: Malformation syndrome
Name: Cleft palate-lateral synechia syndrome
OrphaCode: 2016
DisorderType: Malformation syndrome
Name: Genitopalatocardiac syndrome
OrphaCode: 2075
DisorderType: Malformation syndrome
Name: Gordon syndrome
OrphaCode: 376
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Holzgreve syndrome
OrphaCode: 2167
DisorderType: Malformation syndrome
Name: Hydrolethalus
OrphaCode: 2189
DisorderType: Malformation syndrome
Name: Hypertelorism-microtia-facial clefting syndrome
OrphaCode: 2213
DisorderType: Malformation syndrome
Name: Juberg-Hayward syndrome
OrphaCode: 2319
DisorderType: Malformation syndrome
Name: Kapur-Toriello syndrome
OrphaCode: 2328
DisorderType: Malformation syndrome
Name: Macrosomia-microphthalmia-cleft palate syndrome
OrphaCode: 2432
DisorderType: Malformation syndrome
Name: Dysraphism-cleft lip/palate-limb reduction defects syndrome
OrphaCode: 2476
DisorderType: Malformation syndrome
Name: Microbrachycephaly-ptosis-cleft lip syndrome
OrphaCode: 2511
DisorderType: Malformation syndrome
Name: Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
OrphaCode: 2521
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism-cleft palate-camptodactyly syndrome
OrphaCode: 2631
DisorderType: Malformation syndrome
Name: Oculo-palato-cerebral syndrome
OrphaCode: 2714
DisorderType: Malformation syndrome
Name: Odontotrichomelic syndrome
OrphaCode: 2723
DisorderType: Malformation syndrome
Name: Lethal omphalocele-cleft palate syndrome
OrphaCode: 2736
DisorderType: Malformation syndrome
Name: W syndrome
OrphaCode: 2804
DisorderType: Malformation syndrome
Name: PARC syndrome
OrphaCode: 2825
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome-faciodigital anomaly syndrome
OrphaCode: 2888
DisorderType: Malformation syndrome
Name: RAPADILINO syndrome
OrphaCode: 3021
DisorderType: Malformation syndrome
Name: Richieri Costa-Pereira syndrome
OrphaCode: 3102
DisorderType: Malformation syndrome
Name: Robin sequence-oligodactyly syndrome
OrphaCode: 3104
DisorderType: Malformation syndrome
Name: Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
OrphaCode: 3201
DisorderType: Malformation syndrome
Name: Cleft lip/palate-ectodermal dysplasia syndrome
OrphaCode: 3253
DisorderType: Malformation syndrome
Name: Thomas syndrome
OrphaCode: 3316
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Toriello-Carey syndrome
OrphaCode: 3338
DisorderType: Malformation syndrome
Name: Velo-facial-skeletal syndrome
OrphaCode: 3424
DisorderType: Malformation syndrome
Name: Verloove Vanhorick-Brubakk syndrome
OrphaCode: 3429
DisorderType: Malformation syndrome
Name: Weaver-Williams syndrome
OrphaCode: 3448
DisorderType: Malformation syndrome
Name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
OrphaCode: 477993
DisorderType: Malformation syndrome
Name: Hardikar syndrome
OrphaCode: 1415
DisorderType: Malformation syndrome
Name: Cleft palate-short stature-vertebral anomalies syndrome
OrphaCode: 2015
DisorderType: Malformation syndrome
Name: Dysmorphism-cleft palate-loose skin syndrome
OrphaCode: 1779
DisorderType: Malformation syndrome
Name: Syngnathia-cleft palate syndrome
OrphaCode: 3263
DisorderType: Malformation syndrome
Name: Larsen syndrome
OrphaCode: 503
DisorderType: Malformation syndrome
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
OrphaCode: 77300
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Macular coloboma-cleft palate-hallux valgus syndrome
OrphaCode: 91494
DisorderType: Malformation syndrome
Name: Bilateral microtia-deafness-cleft palate syndrome
OrphaCode: 140963
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
OrphaCode: 163649
DisorderType: Disease
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: Native American myopathy
OrphaCode: 168572
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
OrphaCode: 306542
DisorderType: Malformation syndrome
Name: X-linked cleft palate and ankyloglossia
OrphaCode: 324601
DisorderType: Malformation syndrome
Name: Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
OrphaCode: 660021
DisorderType: Malformation syndrome
Name: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
OrphaCode: 508476
DisorderType: Malformation syndrome
Name: Oculomaxillofacial dysostosis
OrphaCode: 1794
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Isolated congenital syngnathia
OrphaCode: 141214
DisorderType: Malformation syndrome
Name: Popliteal pterygium syndrome
OrphaCode: 294963
DisorderType: Clinical group
Children: Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: SATB2-associated syndrome
OrphaCode: 576278
DisorderType: Malformation syndrome
Children: Name: SATB2-associated syndrome due to a chromosomal rearrangement
OrphaCode: 251028
DisorderType: Etiological subtype
Name: SATB2-associated syndrome due to a pathogenic variant
OrphaCode: 576283
DisorderType: Etiological subtype
Name: Idiopathic bilateral vestibulopathy
OrphaCode: 171684
DisorderType: Disease
Name: Mal de débarquement
OrphaCode: 210272
DisorderType: Clinical syndrome
Name: Semicircular canal dehiscence syndrome
OrphaCode: 420402
DisorderType: Clinical syndrome
Name: Eosinophilic angiocentric fibrosis
OrphaCode: 449566
DisorderType: Disease
Name: IgG4-related submandibular gland disease
OrphaCode: 449432
DisorderType: Clinical subtype
Name: IgG4-related dacryoadenitis and sialadenitis
OrphaCode: 79078
DisorderType: Clinical subtype
Name: Recurrent respiratory papillomatosis
OrphaCode: 60032
DisorderType: Disease
Name: Idiopathic subglottic stenosis
OrphaCode: 652681
DisorderType: Disease