TaoMedAI/RareMedData huggingface dataset:
ORPHA:1355: Sonoda syndrome
ORPHA:1358: Carey-Fineman-Ziter syndrome
ORPHA:1358: Myopathy-Moebius-Robin syndrome
ORPHA:1359: Carney complex
ORPHA:1359: Carney syndrome
ORPHA:1359: Myxoma-spotty pigmentation-endocrine overactivity syndrome
ORPHA:136: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
ORPHA:136: CADASIL
ORPHA:136: Hereditary multi-infarct dementia
ORPHA:1361: Carnosinase deficiency
ORPHA:1366: Autosomal recessive palmoplantar keratoderma and congenital alopecia
ORPHA:1366: Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
ORPHA:1366: Cataract-alopecia-sclerodactyly syndrome
ORPHA:1366: PPK-CA, Wallis type
ORPHA:1366: Palmoplantar keratoderma and congenital alopecia, Wallis type
ORPHA:1368: Cataract-ataxia-deafness syndrome
ORPHA:1368: Cataract-ataxia-hearing loss syndrome
ORPHA:1369: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
ORPHA:1369: Sengers syndrome
ORPHA:137: Congenital disorder of glycosylation
ORPHA:137: CDG
ORPHA:137: Carbohydrate deficient glycoprotein syndrome
ORPHA:1373: Cataract-aberrant oral frenula-growth delay syndrome
ORPHA:1373: Wellesley-Carman-French syndrome
ORPHA:1375: Cataract-hypertrichosis-intellectual disability syndrome
ORPHA:1375: CAHMR syndrome
ORPHA:137577: Neonatal hypoxic and ischemic brain injury
ORPHA:137577: HIE
ORPHA:137577: Hypoxic and ischemic brain injury in the newborn
ORPHA:137577: Hypoxic-ischemic encephalopathy
ORPHA:137577: Perinatal hypoxia
ORPHA:137583: Vulvar intraepithelial neoplasia
ORPHA:137583: VIN
ORPHA:137583: Vulvar intraepithelial tumor
ORPHA:137593: Infectious epithelial keratitis
ORPHA:137596: Neurotrophic keratopathy
ORPHA:137596: Neurotrophic keratitis
ORPHA:137599: Herpes simplex virus stromal keratitis
ORPHA:137602: Corneal endotheliitis
ORPHA:137605: Legius syndrome
ORPHA:137605: NF1-like syndrome
ORPHA:137605: Neurofibromatosis 1-like syndrome
ORPHA:137605: Nonmosaic LGSS
ORPHA:137605: Nonmosaic Legius syndrome
ORPHA:137608: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
ORPHA:137608: SOLAMEN syndrome
ORPHA:137617: Nephrogenic systemic fibrosis
ORPHA:137617: Nephrogenic fibrosing dermopathy
ORPHA:137622: Intractable diarrhea-choanal atresia-eye anomalies syndrome
ORPHA:137625: Glycogen storage disease due to muscle and heart glycogen synthase deficiency
ORPHA:137625: GSD due to muscle and heart glycogen synthase deficiency
ORPHA:137625: GSD type 0b
ORPHA:137625: Glycogen storage disease type 0b
ORPHA:137625: Glycogenosis due to muscle and heart glycogen synthase deficiency
ORPHA:137625: Glycogenosis type 0b
ORPHA:137628: Cardiac anomalies-heterotaxy syndrome
ORPHA:137631: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
ORPHA:137634: Overgrowth-macrocephaly-facial dysmorphism syndrome
ORPHA:137639: Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
ORPHA:137639: Ataxia-delayed dentition-hypomyelination syndrome
ORPHA:137667: Capillary malformation-arteriovenous malformation
ORPHA:137667: CM-AVM
ORPHA:137672: Pellucid marginal degeneration
ORPHA:137675: Histiocytoid cardiomyopathy
ORPHA:137675: Foamy myocardial transformation of infancy
ORPHA:137675: Infantile cardiomyopathy with histiocytoid change
ORPHA:137675: Infantile xanthomatous cardiomyopathy
ORPHA:137675: Oncocytic cardiomyopathy
ORPHA:137678: Spondyloepiphyseal dysplasia with metatarsal shortening
ORPHA:137678: Czech dysplasia, metatarsal type
ORPHA:137678: SED with metatarsal shortening
ORPHA:137681: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
ORPHA:137681: Hepatoencephalopathy due to COXPD1
ORPHA:137686: Asherman syndrome
ORPHA:137698: Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk
ORPHA:137698: CMV disease in patients with impaired cell mediated immunity deemed at risk
ORPHA:1377: Cataract-microcornea syndrome
ORPHA:137754: Aminoacylase 1 deficiency
ORPHA:137754: ACY1D
ORPHA:137754: N-acyl-L-amino acid amidohydrolase deficiency
ORPHA:137754: N-acyl-aliphatic-L-amino acid amidohydrolase deficiency
ORPHA:137776: Lethal congenital contracture syndrome type 2
ORPHA:137776: LCCS2
ORPHA:137776: Multiple contracture syndrome, Israeli-Bedouin type
ORPHA:137783: Lethal congenital contracture syndrome type 3
ORPHA:137783: LCCS3
ORPHA:137807: Primary cutaneous amyloidosis
ORPHA:137807: PLCA
ORPHA:137807: Primary localized cutaneous amyloidosis
ORPHA:137810: Nodular cutaneous amyloidosis
ORPHA:137810: PLCNA
ORPHA:137810: Primary localized cutaneous nodular amyloidosis
ORPHA:137814: Macular amyloidosis
ORPHA:137817: Arachnoiditis
ORPHA:137817: Adhesive arachnoiditis
ORPHA:137817: Chronic arachnoiditis
ORPHA:137820: Extrapelvic endometriosis
ORPHA:137820: Endometriosis outside pelvis
ORPHA:137831: X-linked intellectual disability-cerebellar hypoplasia syndrome
ORPHA:137831: OPHN1 syndrome
ORPHA:137831: Oligophrenin-1 syndrome
ORPHA:137834: Frank-Ter Haar syndrome
ORPHA:137834: Ter Haar syndrome
ORPHA:137839: Lemierre syndrome
ORPHA:137839: Lemierre postanginal sepsis
ORPHA:137839: Postanginal sepsis secondary to orophyngeal infection
ORPHA:137839: Septic phlebitis of the internal jugular vein
ORPHA:137867: Madras motor neuron disease
ORPHA:137867: MMND
ORPHA:137888: Auriculocondylar syndrome
ORPHA:137888: Question mark ear syndrome
ORPHA:137893: Male infertility due to large-headed multiflagellar polyploid spermatozoa
ORPHA:137893: Macrocephalic sperm head syndrome
ORPHA:137893: Male infertility due to macrozoospermia
ORPHA:137898: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
ORPHA:137898: LBSL
ORPHA:137898: Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
ORPHA:137905: Syndromic optic nerve hypoplasia
ORPHA:137908: Hypotonia with lactic acidemia and hyperammonemia
ORPHA:137908: COXPD5
ORPHA:137908: Combined oxidative phosphorylation defect type 5
ORPHA:137914: Choanal atresia
ORPHA:137917: Choanal atresia, unilateral
ORPHA:137920: Choanal atresia, bilateral
ORPHA:137926: Primary laryngeal lymphangioma
ORPHA:137929: Neonatal brainstem dysfunction
ORPHA:137932: Congenital laryngeal palsy
ORPHA:137932: Congenital vocal cord paralysis
ORPHA:137935: Airway infantile hemangioma
ORPHA:137935: Laryngotracheal angioma
ORPHA:138: CHARGE syndrome
ORPHA:138: CHARGE association
ORPHA:138: Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
ORPHA:138: Hall-Hittner syndrome
ORPHA:1380: Cataract-nephropathy-encephalopathy syndrome
ORPHA:1380: Crome syndrome
ORPHA:138041: Pierre Robin syndrome associated with collagen disease
ORPHA:138041: Pierre Robin sequence associated with collagen disease
ORPHA:138044: Rare disease with Pierre Robin syndrome
ORPHA:138047: Pierre Robin syndrome associated with a chromosomal anomaly
ORPHA:138047: Pierre Robin sequence associated with a chromosomal anomaly
ORPHA:138050: Pierre Robin syndrome associated with branchial archs anomalies
ORPHA:138050: Pierre Robin sequence associated with branchial archs anomalies
ORPHA:138055: Pierre Robin syndrome associated with bone disease
ORPHA:138055: Pierre Robin sequence associated with bone disease
ORPHA:138059: Teratogenic Pierre Robin syndrome
ORPHA:138059: Teratogenic Pierre Robin sequence
ORPHA:1381: Cataract-intellectual disability-anal atresia-urinary defects syndrome
ORPHA:1381: Karandikar-Maria-Kamble syndrome
ORPHA:1383: Cataract-deafness-hypogonadism syndrome
ORPHA:1383: Cataract-hearing loss-hypogonadism syndrome
ORPHA:1383: Schaap-Taylor-Baraitser syndrome
ORPHA:1387: Cataract-intellectual disability-hypogonadism syndrome
ORPHA:1387: Martsolf syndrome
ORPHA:1388: Catel-Manzke syndrome
ORPHA:1388: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
ORPHA:1388: Index finger anomaly-Pierre Robin syndrome
ORPHA:1388: Micrognathia digital syndrome
ORPHA:1388: Palatodigital syndrome, Catel-Manzke type
ORPHA:1388: Pierre Robin sequence-hyperphalangy-clinodactyly syndrome
ORPHA:1388: Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome
ORPHA:1389: Cortical blindness-intellectual disability-polydactyly syndrome
ORPHA:139: CHILD syndrome
ORPHA:139: CHILD nevus
ORPHA:139: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
ORPHA:1390: Night blindness-skeletal anomalies-dysmorphism syndrome
ORPHA:1390: Hunter-Thompson-Reed syndrome
ORPHA:139009: Developmental anomaly of metabolic origin
ORPHA:139012: Rare bone development disorder
ORPHA:139012: Rare skeletal development disorder
ORPHA:139021: Malformation syndrome with short stature
ORPHA:139024: Overgrowth/obesity syndrome
ORPHA:139027: Rare developmental defect with skin/mucosae involvement
ORPHA:139030: Rare developmental defect with connective tissue involvement
ORPHA:139033: Progeroid syndrome
ORPHA:139036: Branchial arch or oral-acral syndrome
ORPHA:139039: Orofacial clefting syndrome
ORPHA:139042: Malformation syndrome with odontal and/or periodontal component
ORPHA:1393: Cerebrocostomandibular syndrome
ORPHA:139390: Non-syndromic craniosynostosis
ORPHA:139390: Isolated craniosynostosis
ORPHA:139393: Syndromic craniosynostosis
ORPHA:139396: X-linked cerebral adrenoleukodystrophy
ORPHA:139396: X-CALD
ORPHA:139399: Adrenomyeloneuropathy
ORPHA:1394: Cerebrofaciothoracic dysplasia
ORPHA:1394: Pascual-Castroviejo syndrome type 1
ORPHA:139402: Drug reaction with eosinophilia and systemic symptoms
ORPHA:139402: DRESS syndrome
ORPHA:139402: Drug rash with eosinophilia and systemic symptoms
ORPHA:139406: Encephalopathy due to prosaposin deficiency
ORPHA:139406: Combined prosaposin deficiency
ORPHA:139411: Carney triad
ORPHA:139414: Congenital panfollicular nevus
ORPHA:139417: Acute transverse myelitis
ORPHA:139423: Idiopathic acute transverse myelitis
ORPHA:139426: Perioral myoclonia with absences
ORPHA:139426: POMA
ORPHA:139431: Epilepsy with eyelid myoclonia
ORPHA:139431: EMA
ORPHA:139431: EMEA
ORPHA:139431: Eyelid myoclonia with and without absences
ORPHA:139431: Jeavons syndrome
ORPHA:139436: Multicentric reticulohistiocytosis
ORPHA:139436: Giant cell histiocytomatosis
ORPHA:139436: Lipoid dermatoarthritis
ORPHA:139441: Hypomyelination with atrophy of basal ganglia and cerebellum
ORPHA:139441: H-ABC
ORPHA:139444: Leukoencephalopathy with bilateral anterior temporal lobe cysts
ORPHA:139447: Progressive cavitating leukoencephalopathy
ORPHA:139450: Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
ORPHA:139450: Balikova-Vermeesch syndrome
ORPHA:139455: Autosomal recessive bestrophinopathy
ORPHA:139455: Retinopathy, Burgess-Black type
ORPHA:139466: SERKAL syndrome
ORPHA:139466: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
ORPHA:139471: Microphthalmia with brain and digit anomalies
ORPHA:139471: Bakrania-Ragge syndrome
ORPHA:139471: MCOPS6
ORPHA:139471: Syndromic microphthalmia type 6
ORPHA:139474: 17q11.2 microduplication syndrome
ORPHA:139474: Dup(17)(q11.2)
ORPHA:139474: Grisart-Destrée syndrome
ORPHA:139474: Trisomy 17q11.2
ORPHA:139480: Autosomal recessive spastic paraplegia type 39
ORPHA:139480: SPG39
ORPHA:139480: Spastic paraplegia due to NTE mutation
ORPHA:139480: Spastic paraplegia due to neuropathy target esterase mutation
ORPHA:139485: Autosomal recessive ataxia due to ubiquinone deficiency
ORPHA:139485: ARCA2
ORPHA:139485: Autosomal recessive ataxia due to coenzyme Q10 deficiency
ORPHA:139485: Autosomal recessive cerebellar ataxia type 2
ORPHA:139485: Autosomal recessive spinocerebellar ataxia type 9
ORPHA:139485: SCAR9
ORPHA:139507: Dietary iron overload disease
ORPHA:139507: African iron overload
ORPHA:139507: Bantu siderosis
ORPHA:139512: Neuropathy with hearing impairment
ORPHA:139515: Charcot-Marie-Tooth disease type 4J
ORPHA:139515: CMT4J
ORPHA:139518: Distal hereditary motor neuropathy type 1
ORPHA:139518: Autosomal dominant distal juvenile spinal muscular atrophy type 1
ORPHA:139518: dHMN1
ORPHA:139525: Distal hereditary motor neuropathy type 2
ORPHA:139525: Distal spinal muscular atrophy type 2
ORPHA:139525: dHMN2
ORPHA:139525: dSMA2
ORPHA:139536: Distal hereditary motor neuropathy type 5
ORPHA:139536: Distal HMN V
ORPHA:139536: Distal hereditary motor neuropathy type V
ORPHA:139536: Distal spinal muscular atrophy type 5
ORPHA:139536: dHMN5
ORPHA:139547: Distal spinal muscular atrophy type 3
ORPHA:139547: Autosomal recessive distal spinal muscular atrophy type 3
ORPHA:139547: Distal hereditary motor neuropathy type 3 and type 4
ORPHA:139547: dHMN3 and dHMN4
ORPHA:139547: dSMA3
ORPHA:139552: Distal hereditary motor neuropathy, Jerash type
ORPHA:139552: Autosomal recessive distal spinal muscular atrophy type 2
ORPHA:139552: dHMNJ
ORPHA:139557: X-linked distal spinal muscular atrophy type 3
ORPHA:139557: ATP7A-related distal motor neuropathy
ORPHA:139557: DSMAX
ORPHA:139557: SMAX3
ORPHA:139557: X-linked dHMN3
ORPHA:139557: X-linked dSMA3
ORPHA:139557: X-linked distal hereditary motor neuropathy type 3
ORPHA:139564: Hereditary sensory and autonomic neuropathy type 1B
ORPHA:139564: HSAN with cough and gastroesophageal reflux
ORPHA:139564: HSAN1B
ORPHA:139564: Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux
ORPHA:139564: Hereditary sensory and autonomic neuropathy type IB
ORPHA:139573: Hereditary sensory and autonomic neuropathy with deafness and global delay
ORPHA:139573: HSAN with deafness and global delay
ORPHA:139573: HSAN with hearing loss and global delay
ORPHA:139573: Hereditary sensory and autonomic neuropathy with hearing loss and global delay
ORPHA:139578: Mutilating hereditary sensory neuropathy with spastic paraplegia
ORPHA:139578: Mutilating HSAN with spastic paraplegia
ORPHA:139583: X-linked hereditary sensory and autonomic neuropathy with deafness
ORPHA:139583: X-linked HSAN with deafness
ORPHA:139583: X-linked HSAN with hearing loss
ORPHA:139583: X-linked auditory neuropathy with peripheral sensory neuropathy type 1
ORPHA:139583: X-linked hereditary sensory and autonomic neuropathy with hearing loss
ORPHA:139589: Distal hereditary motor neuropathy type 7
ORPHA:139589: Distal spinal muscular atrophy with vocal cord paralysis
ORPHA:139589: dHMN7
ORPHA:1397: Hydrocephaly-cerebellar agenesis syndrome
ORPHA:1398: Isolated cerebellar agenesis
ORPHA:1398: Near total absence of cerebellum
ORPHA:1398: Subtotal absence of cerebellum
ORPHA:1399: Richards-Rundle syndrome
ORPHA:1399: Ketoaciduria-intellectual disability-ataxia-deafness syndrome
ORPHA:1399: Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome
ORPHA:14: Abetalipoproteinemia
ORPHA:14: Bassen-Kornzweig disease
ORPHA:14: Homozygous familial hypobetalipoproteinemia
ORPHA:140: Campomelic dysplasia
ORPHA:140: Campomelic dwarfism
ORPHA:1401: CHAND syndrome
ORPHA:1401: Baughman syndrome
ORPHA:1401: CHANDS
ORPHA:1401: Curly hair-ankyloblepharon-nail dysplasia syndrome
ORPHA:140162: Inherited cancer-predisposing syndrome
ORPHA:140286: Secondary hypoparathyroidism due to impaired parathormon secretion
ORPHA:140436: Primary intraosseous venous malformation
ORPHA:140436: Intraosseous hemangioma
ORPHA:140436: Osseous venous malformation
ORPHA:140453: Autosomal dominant hereditary demyelinating motor and sensory neuropathy
ORPHA:140456: Autosomal dominant hereditary axonal motor and sensory neuropathy
ORPHA:140459: Autosomal recessive hereditary demyelinating motor and sensory neuropathy
ORPHA:140465: Autosomal dominant distal hereditary motor neuropathy
ORPHA:140465: Autosomal dominant dHMN
ORPHA:140465: Autosomal dominant distal spinal muscular atrophy
ORPHA:140468: Autosomal recessive distal hereditary motor neuropathy
ORPHA:140468: Autosomal recessive dHMN
ORPHA:140468: Autosomal recessive dSMA
ORPHA:140468: Autosomal recessive distal spinal muscular atrophy
ORPHA:140471: Hereditary sensory and autonomic neuropathy
ORPHA:140471: HSAN
ORPHA:140474: Autosomal dominant hereditary sensory and autonomic neuropathy
ORPHA:140477: Autosomal recessive hereditary sensory and autonomic neuropathy
ORPHA:140481: Autosomal dominant slowed nerve conduction velocity
ORPHA:1406: Charlie M syndrome
ORPHA:140653: Neuro-ophthalmological disease
ORPHA:140874: Joubert syndrome and related disorders
ORPHA:140874: JSRD
ORPHA:140896: Severe acute respiratory syndrome
ORPHA:140896: SARS
ORPHA:140896: SARS-1
ORPHA:140905: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
ORPHA:140905: Hyperlipidemia due to HL deficiency
ORPHA:140905: Hyperlipidemia due to HTGL deficiency
ORPHA:140905: Hyperlipidemia due to hepatic lipase deficiency
ORPHA:140905: Hyperlipidemia due to hepatic triglyceride lipase deficiency
ORPHA:140908: Brachydactyly type B2
ORPHA:140917: Stapes ankylosis with broad thumbs and toes
ORPHA:140917: Teunissen-Cremers syndrome
ORPHA:140922: Titin-related limb-girdle muscular dystrophy R10
ORPHA:140922: Autosomal recessive limb-girdle muscular dystrophy type 2J
ORPHA:140922: LGMD type 2J
ORPHA:140922: LGMD2J
ORPHA:140922: Limb-girdle muscular dystrophy type 2J
ORPHA:140922: Titin-related LGMD R10
ORPHA:140927: Self-limited neonatal-infantile epilepsy
ORPHA:140927: BFNIS
ORPHA:140927: Benign familial neonatal-infantile seizures
ORPHA:140927: Benign neonatal-infantile epilepsy
ORPHA:140927: SeLFNIE
ORPHA:140933: Linear atrophoderma of Moulin
ORPHA:140936: Lelis syndrome
ORPHA:140936: Ectodermal dysplasia-acanthosis nigricans syndrome
ORPHA:140941: Short stature due to primary acid-labile subunit deficiency
ORPHA:140944: CLOVES syndrome
ORPHA:140944: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
ORPHA:140944: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
ORPHA:140949: Low-flow priapism
ORPHA:140952: Syndactyly-telecanthus-anogenital and renal malformations syndrome
ORPHA:140952: STAR syndrome
ORPHA:140957: Autosomal dominant macrothrombocytopenia
ORPHA:140963: Bilateral microtia-deafness-cleft palate syndrome
ORPHA:140963: Bilateral microtia-hearing loss-cleft palate syndrome
ORPHA:140966: Palmoplantar keratoderma, Nagashima type
ORPHA:140966: PPK, Nagashima type
ORPHA:140966: Palmoplantar hyperkeratosis, Nagashima type
ORPHA:140969: Saldino-Mainzer syndrome
ORPHA:140969: Conorenal syndrome
ORPHA:140969: Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome
ORPHA:140976: RHYNS syndrome
ORPHA:140976: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
ORPHA:140989: Primary angiitis of the central nervous system
ORPHA:140989: Isolated angiitis of the central nervous system
ORPHA:140989: PACNS
ORPHA:140989: PCNSV
ORPHA:140989: Primary central nervous system vasculitis
ORPHA:140989: Primary vasculitis of the central nervous system
ORPHA:140997: Orofaciodigital syndrome
ORPHA:140997: OFD
ORPHA:140997: Oral-facial-digital syndrome
ORPHA:141: Canavan disease
ORPHA:141: ACY2 deficiency
ORPHA:141: Aminoacylase 2 deficiency
ORPHA:141: Aspartoacylase deficiency
ORPHA:141: Spongy degeneration of the brain
ORPHA:1410: Uncombable hair syndrome
ORPHA:1410: Pili trianguli et canaliculi
ORPHA:141000: Orofaciodigital syndrome type 11
ORPHA:141000: OFD11
ORPHA:141000: Oral-facial-digital syndrome type 11
ORPHA:141000: Oral-facial-digital syndrome, Gabrielli type
ORPHA:141000: Orofaciodigital syndrome, Gabrielli type
ORPHA:141007: Orofaciodigital syndrome type 9
ORPHA:141007: OFD9
ORPHA:141007: Oral-facial-digital syndrome type 9
ORPHA:141007: Oral-facial-digital syndrome with retinal abnormalities
ORPHA:141007: Orofaciodigital syndrome with retinal abnormalities
ORPHA:141013: First branchial cleft anomaly
ORPHA:141013: First branchial cleft cyst
ORPHA:141013: First branchial cleft fistula
ORPHA:141022: Second branchial cleft anomaly
ORPHA:141022: Second branchial cleft cyst
ORPHA:141022: Second branchial cleft fistula
ORPHA:141030: Third branchial cleft anomaly
ORPHA:141030: Third branchial cleft cyst
ORPHA:141030: Third branchial cleft fistula
ORPHA:141037: Fourth branchial cleft anomaly
ORPHA:141037: Fourth branchial cleft cyst
ORPHA:141037: Fourth branchial cleft fistula
ORPHA:141046: Cervical dermoid cyst
ORPHA:141046: Dermoid cyst of the neck
ORPHA:141051: Facial dermoid cyst
ORPHA:141051: Dermoid cyst of the face
ORPHA:141061: Commissural lip fistula
ORPHA:141064: Isolated lower lip fistula
ORPHA:141064: Isolated lower lip pits
ORPHA:141064: Non-syndromic familial congenital lower lip pits
ORPHA:141067: Cervicofacial fibrochondroma
ORPHA:141071: Digestive duplication cyst of the tongue
ORPHA:141071: Enteric duplication cyst of the tongue
ORPHA:141071: Foregut duplication cyst of the tongue
ORPHA:141071: Gastric duplication cyst of the tongue
ORPHA:141074: External auditory canal aplasia/hypoplasia
ORPHA:141074: External auditory canal stenosis/atresia
ORPHA:141077: Epignathus
ORPHA:141077: Oropharyngeal teratoma
ORPHA:141083: Nasolacrimal duct cyst
ORPHA:141083: Dacryocele
ORPHA:141083: Dacryocystocele
ORPHA:141083: Nasolacrimal mucocele
ORPHA:141091: Polyrrhinia
ORPHA:141091: Double nose
ORPHA:141091: Polyrhinia
ORPHA:141096: Supernumerary nostril
ORPHA:141096: Accessory nostril
ORPHA:141099: Proboscis lateralis
ORPHA:141099: Congenital tubular nose
ORPHA:141103: Nasal dermoid cyst
ORPHA:141103: Nasal dermoid sinus cyst
ORPHA:141107: Nasopharyngeal teratoma
ORPHA:141107: Teratoma of the nasopharynx
ORPHA:141112: Nasal glial heterotopia
ORPHA:141112: Nasal glioma
ORPHA:141115: Nasal ganglioglioma
ORPHA:141118: Nasal encephalocele
ORPHA:141121: Congenital subglottic stenosis
ORPHA:141124: Congenital laryngeal cyst
ORPHA:141127: Congenital tracheal stenosis
ORPHA:141132: Oculo-auriculo-vertebral spectrum
ORPHA:141132: Goldenhar syndrome
ORPHA:141132: OAV spectrum
ORPHA:141132: Oculoauriculovertebral spectrum
ORPHA:141145: Hemifacial hyperplasia
ORPHA:141145: Hemifacial hypertrophy
ORPHA:141148: Hemifacial myohyperplasia
ORPHA:141152: Isolated congenital hypoglossia/aglossia
ORPHA:141163: Glossopalatine ankylosis
ORPHA:141163: Cosack syndrome
ORPHA:141168: Frontonasal arteriovenous malformation
ORPHA:141171: Maxillary arteriovenous malformation
ORPHA:141171: Arteriovenous malformation of maxilla
ORPHA:141174: Mandibular arteriovenous malformation
ORPHA:141174: Arteriovenous malformation of mandible
ORPHA:141179: Non-involuting congenital hemangioma
ORPHA:141179: NICH
ORPHA:141184: Rapidly involuting congenital hemangioma
ORPHA:141184: RICH
ORPHA:141189: Cerebrofacial arteriovenous metameric syndrome
ORPHA:141189: CAMS
ORPHA:141194: Cerebrofacial arteriovenous metameric syndrome type 1
ORPHA:141194: CAMS1
ORPHA:141199: Cerebrofacial arteriovenous metameric syndrome type 3
ORPHA:141199: CAMS3
ORPHA:1412: Tarsal-carpal coalition syndrome
ORPHA:141209: Diffuse lymphatic malformation
ORPHA:141209: Diffuse lymphangioma
ORPHA:141209: Diffuse lymphangiomatosis
ORPHA:141209: Disseminated lymphangioma
ORPHA:141209: Disseminated lymphangiomatosis
ORPHA:141209: Disseminated lymphatic malformation
ORPHA:141209: GLA
ORPHA:141209: Generalized lymphatic anomaly
ORPHA:141214: Isolated congenital syngnathia
ORPHA:141214: Isolated congenital maxillomandibular fusion
ORPHA:141219: Nasal dorsum fistula
ORPHA:141229: Facial cleft
ORPHA:141229: Craniofacial cleft
ORPHA:141234: Median facial cleft
ORPHA:141234: Midline facial cleft
ORPHA:141234: Tessier number 0-14 and 30 facial cleft
ORPHA:141239: Median cleft of the upper lip and maxilla
ORPHA:141242: Paramedian nasal cleft
ORPHA:141242: Alar cleft
ORPHA:141242: Alar rim cleft
ORPHA:141242: Cleft nose
ORPHA:141242: Isolated cleft of the ala nasi
ORPHA:141242: Isolated coloboma of the nose
ORPHA:141242: Tessier number 1 cleft
ORPHA:141253: Oblique facial cleft
ORPHA:141253: Orbitofacial cleft
ORPHA:141258: Tessier number 4 facial cleft
ORPHA:141261: Tessier number 5 facial cleft
ORPHA:141265: Tessier number 6 facial cleft
ORPHA:141269: Lateral facial cleft
ORPHA:141276: Tessier number 7 facial cleft
ORPHA:141276: Commissural facial cleft
ORPHA:141276: Transverse facial cleft
ORPHA:141288: Midline cervical cleft
ORPHA:141291: Cleft lip and alveolus
ORPHA:141333: Biemond syndrome type 2
ORPHA:141333: Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome
ORPHA:1414: Cholestasis-lymphedema syndrome
ORPHA:1414: Aagenaes syndrome
ORPHA:1415: Hardikar syndrome