TaoMedAI/RareMedData huggingface dataset:
ORPHA:478029: Combined oxidative phosphorylation defect type 29
ORPHA:478029: COXPD29
ORPHA:478042: Combined oxidative phosphorylation defect type 30
ORPHA:478042: COXPD30
ORPHA:478049: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
ORPHA:478664: Hereditary sensory and autonomic neuropathy type 8
ORPHA:478664: HSAN8
ORPHA:478664: Hereditary sensory and autonomic neuropathy type VIII
ORPHA:48: Congenital bilateral absence of vas deferens
ORPHA:48: Congenital bilateral agenesis of vas deferens
ORPHA:48: Congenital bilateral aplasia of vas deferens
ORPHA:480: Kearns-Sayre syndrome
ORPHA:480476: Progressive familial intrahepatic cholestasis type 5
ORPHA:480476: NR1H4 deficiency
ORPHA:480476: PFIC5
ORPHA:480483: Progressive familial intrahepatic cholestasis type 4
ORPHA:480483: PFIC4
ORPHA:480483: TJP2 deficit
ORPHA:480491: MYO5B-related progressive familial intrahepatic cholestasis
ORPHA:480491: MYO5B deficiency
ORPHA:480501: Choledochal cyst
ORPHA:480501: Congenital cystic dilatation of the biliary tract
ORPHA:480506: Primary intrahepatic lithiasis
ORPHA:480506: PIHL
ORPHA:480506: Primary hepatolithiasis
ORPHA:480512: Idiopathic ductopenia
ORPHA:480512: IAD
ORPHA:480512: Idiopathic adult ductopenia
ORPHA:480520: Caroli syndrome
ORPHA:480524: Idiopathic peliosis hepatis
ORPHA:480524: Idiopathic peliosis hepatitis
ORPHA:480528: Lethal hydranencephaly-diaphragmatic hernia syndrome
ORPHA:480531: Congenital portosystemic shunt
ORPHA:480531: Congenital portosystemic venous fistula
ORPHA:480536: MSH3-related attenuated familial adenomatous polyposis
ORPHA:480536: MSH3-related AFAP
ORPHA:480536: MSH3-related attenuated FAP
ORPHA:480536: MSH3-related attenuated familial polyposis coli
ORPHA:480541: High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
ORPHA:480549: Non-severe combined immunodeficiency
ORPHA:480549: Non-SCID
ORPHA:480553: Aneurysmal bone cyst
ORPHA:480556: Isolated neonatal sclerosing cholangitis
ORPHA:480682: POGLUT1-related limb-girdle muscular dystrophy R21
ORPHA:480682: Autosomal recessive limb-girdle muscular dystrophy type 2Z
ORPHA:480682: LGMD type 2Z
ORPHA:480682: LGMD2Z
ORPHA:480682: Limb-girdle muscular dystrophy type 2Z
ORPHA:480682: POGLUT1-related LGMD R21
ORPHA:480701: Facial diplegia with paresthesias
ORPHA:480701: Facial diplegia with paresthesias variant of GBS
ORPHA:480701: Facial diplegia with paresthesias variant of Guillain-Barré syndrome
ORPHA:480851: Hereditary thrombocytopenia with early-onset myelofibrosis
ORPHA:480864: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
ORPHA:480864: TANGO2-related metabolic encephalopathy-arrhythmia syndrome
ORPHA:480880: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
ORPHA:480880: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
ORPHA:480898: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
ORPHA:480907: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
ORPHA:481: Kennedy disease
ORPHA:481: SBMA
ORPHA:481: SMAX1
ORPHA:481: X-linked BSMA
ORPHA:481: X-linked bulbospinal amyotrophy
ORPHA:481: X-linked bulbospinal muscular atrophy
ORPHA:481: X-linked spinal and bulbar muscular atrophy
ORPHA:48104: Pyoderma gangrenosum
ORPHA:481152: PYCR2-related microcephaly-progressive leukoencephalopathy
ORPHA:481508: Gastroenteric neuroendocrine neoplasm
ORPHA:48162: Lewis-Sumner syndrome
ORPHA:48162: MADSAM
ORPHA:48162: Multifocal acquired demyelinating sensory and motor neuropathy
ORPHA:481662: Familial Chilblain lupus
ORPHA:481665: USP18 deficiency
ORPHA:481671: Type 1 interferonopathy of childhood
ORPHA:481771: Genetic alopecia
ORPHA:481986: Familial schizencephaly
ORPHA:482: Kimura disease
ORPHA:482: Eosinophilic lymphogranuloma
ORPHA:482072: HTRA1-related cerebral small vessel disease
ORPHA:482072: HTRA1-related cerebral angiopathy
ORPHA:482077: HTRA1-related autosomal dominant cerebral small vessel disease
ORPHA:482077: HTRA1-related autosomal dominant cerebral angiopathy
ORPHA:482092: Rare idiopathic macular telangiectasia
ORPHA:482601: Adenylosuccinate synthetase-like 1-related distal myopathy
ORPHA:482601: ADSSL1-related distal myopathy
ORPHA:482606: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
ORPHA:483: Congenital high-molecular-weight kininogen deficiency
ORPHA:48372: Nodular regenerative hyperplasia of the liver
ORPHA:48372: Non-cirrhotic nodulation
ORPHA:48377: Subcorneal pustular dermatosis
ORPHA:48377: Pustulosis subcornealis
ORPHA:48377: Sneddon-Wilkinson disease
ORPHA:48377: Subcorneal pustular dermatitis
ORPHA:48431: Congenital cataracts-facial dysmorphism-neuropathy syndrome
ORPHA:48431: CCFDN
ORPHA:48435: Postinfectious vasculitis
ORPHA:48471: Lissencephaly
ORPHA:485: Kniest dysplasia
ORPHA:485275: Acquired schizencephaly
ORPHA:485350: CLCN4-related X-linked intellectual disability syndrome
ORPHA:485350: Raynaud-Claes syndrome
ORPHA:485358: Propylthiouracil embryofetopathy
ORPHA:485358: PTU embryofetopathy
ORPHA:485358: PTU embryopathy
ORPHA:485358: Propylthiouracil embryopathy
ORPHA:485382: Rare genetic premature ovarian failure
ORPHA:485405: 16p12.1p12.3 triplication syndrome
ORPHA:485405: Tetrasomy 16p12.1p12.3
ORPHA:485405: Trip(16)(p12.1p12.3)
ORPHA:485418: EMILIN-1-related connective tissue disease
ORPHA:485421: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
ORPHA:485421: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome
ORPHA:485421: Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome
ORPHA:485426: Isolated congenital hepatic fibrosis
ORPHA:485426: Isolated CHF
ORPHA:485631: Congenital bile acid synthesis defect
ORPHA:485631: BASD
ORPHA:486: Autosomal dominant severe congenital neutropenia
ORPHA:48652: Phelan-McDermid syndrome
ORPHA:486811: Prenatal-onset spinal muscular atrophy with congenital bone fractures
ORPHA:486811: SMABF
ORPHA:486815: Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
ORPHA:486815: Congenital muscular dystrophy, Davignon-Chauveau type
ORPHA:48686: Primary effusion lymphoma
ORPHA:48686: Body cavity-based lymphoma
ORPHA:48686: PEL
ORPHA:486955: Rare pediatric rheumatologic disease
ORPHA:487: Krabbe disease
ORPHA:487: GALC deficiency
ORPHA:487: Galactocerebrosidase deficiency
ORPHA:487: Galactosylceramidase deficiency
ORPHA:487: Globoid cell leukodystrophy
ORPHA:48736: Embryonal carcinoma of the central nervous system
ORPHA:48736: Embryonal carcinoma of the CNS
ORPHA:487796: Takenouchi-Kosaki syndrome
ORPHA:487796: Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
ORPHA:487809: Pediatric collagenous gastritis
ORPHA:487809: Childhood-onset collagenous gastritis
ORPHA:487814: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
ORPHA:487814: CMT2 due to DGAT2 mutation
ORPHA:487825: Pierpont syndrome
ORPHA:487825: Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
ORPHA:487825: Plantar lipomatosis-unusual facies-developmental delay syndrome
ORPHA:488: Urachal cyst
ORPHA:488168: Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
ORPHA:488168: SMO deficiency
ORPHA:488168: Sterol-C4-methyl oxidase deficiency
ORPHA:48818: Aceruloplasminemia
ORPHA:48818: Hereditary ceruloplasmin deficiency
ORPHA:488191: Female infertility due to oocyte meiotic arrest
ORPHA:488197: Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
ORPHA:488232: Split-foot malformation-mesoaxial polydactyly syndrome
ORPHA:488232: SFMMP
ORPHA:488232: Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
ORPHA:488239: Acute macular neuroretinopathy
ORPHA:488239: AMNR
ORPHA:488265: Osteofibrous dysplasia
ORPHA:488265: OFD
ORPHA:488280: 14q32 duplication syndrome
ORPHA:488280: Dup(14)q(32)
ORPHA:488280: Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication
ORPHA:488280: Trisomy 14q32
ORPHA:488333: Autosomal dominant Charcot-Marie-Tooth disease type 2W
ORPHA:488333: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation
ORPHA:488333: CMT2W
ORPHA:488434: Camptodactyly syndrome, Guadalajara type 3
ORPHA:488437: SIX2-related frontonasal dysplasia
ORPHA:488437: SIX2-related FND
ORPHA:488586: Congenital amyoplasia
ORPHA:488586: Amyoplasia congenita
ORPHA:488594: Autosomal recessive spastic paraplegia type 76
ORPHA:488594: SPG76
ORPHA:488613: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
ORPHA:488618: Transketolase deficiency
ORPHA:488618: Short stature-developmental delay-congenital heart defect syndrome
ORPHA:488618: TKT deficiency
ORPHA:488627: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
ORPHA:488632: TBCK-related intellectual disability syndrome
ORPHA:488635: Early-onset epilepsy-intellectual disability-brain anomalies syndrome
ORPHA:488635: Congenital disorder of glycosylation due to PIGG deficiency
ORPHA:488635: PIGG-CDG
ORPHA:488642: TELO2-related intellectual disability-neurodevelopmental disorder
ORPHA:488642: You-Hoover-Fong syndrome
ORPHA:488647: DDX41-related hematologic malignancy predisposition syndrome
ORPHA:488650: Distal myopathy, Tateyama type
ORPHA:48918: Focal myositis
ORPHA:48918: Focal nodular myositis
ORPHA:48918: Inflammatory pseudotumor of skeletal muscle
ORPHA:49: Penile agenesis
ORPHA:49: Aphallia
ORPHA:49: Penis agenesis
ORPHA:490: Omphalomesenteric cyst
ORPHA:49041: IgG4-related retroperitoneal fibrosis
ORPHA:49041: Idiopathic retroperitoneal fibrosis
ORPHA:49041: Ormond disease
ORPHA:49042: Dentinogenesis imperfecta
ORPHA:49042: DGI
ORPHA:49042: DGI without OI
ORPHA:49042: DI
ORPHA:49042: Dentinogenesis imperfecta without osteogenesis imperfecta
ORPHA:49042: Non-syndromic DGI
ORPHA:49042: Non-syndromic dentinogenesis imperfecta
ORPHA:49042: Opalescent teeth without OI
ORPHA:49042: Opalescent teeth without osteogenesis imperfecta
ORPHA:492: Proliferating trichilemmal cyst
ORPHA:493: Familial keratoacanthoma
ORPHA:493: Hereditary keratoacanthoma
ORPHA:493: Multiple keratoacanthoma
ORPHA:493342: Vibratory urticaria
ORPHA:493342: Vibratory angioedema/urticaria
ORPHA:49382: Achromatopsia
ORPHA:49382: ACHM
ORPHA:49382: Complete or incomplete color blindness
ORPHA:49382: Pingelapese blindness
ORPHA:49382: Rod monochromacy
ORPHA:49382: Rod monochromatism
ORPHA:49382: Total color blindness
ORPHA:494: Keratoderma hereditarium mutilans
ORPHA:494: Mutilating keratoderma of Vohwinkel
ORPHA:494: Mutilating keratoderma plus deafness
ORPHA:494: Mutilating keratoderma plus hearing loss
ORPHA:494: PPK mutilans and deafness
ORPHA:494: PPK mutilans and hearing loss
ORPHA:494: Vohwinkel syndrome
ORPHA:494344: RERE-related neurodevelopmental syndrome
ORPHA:494418: Vulvar carcinoma
ORPHA:494418: Carcinoma of vulva
ORPHA:494421: Sacrococcygeal teratoma
ORPHA:494424: Extracranial carotid artery aneurysm
ORPHA:494424: ECAA
ORPHA:494424: ECCA
ORPHA:494428: Idiopathic pleuroparenchymal fibroelastosis
ORPHA:494428: IPPFE
ORPHA:494428: Idiopathic pleuropulmonary fibroelastosis
ORPHA:494433: MIRAGE syndrome
ORPHA:494433: Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome
ORPHA:494433: Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome
ORPHA:494439: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
ORPHA:494439: Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome
ORPHA:494444: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
ORPHA:494444: DIAPH1-related sensorineural deafness-thrombocytopenia syndrome
ORPHA:494448: Vulvar squamous cell carcinoma
ORPHA:494448: Squamous cell carcinoma of the vulva
ORPHA:494451: Vulvar basal cell carcinoma
ORPHA:494451: Basal cell carcinoma of vulva
ORPHA:494454: Vulvar adenocarcinoma
ORPHA:494454: Adenocarcinoma of the vulva
ORPHA:494457: Rare hyperkinetic movement disorder
ORPHA:494526: Infantile-onset generalized dyskinesia with orofacial involvement
ORPHA:494526: Infantile-onset orofacial-trunk-limbs dyskinesia
ORPHA:494541: Childhood-onset benign chorea with striatal involvement
ORPHA:494547: Squamous cell carcinoma of the hypopharynx
ORPHA:494550: Squamous cell carcinoma of the larynx
ORPHA:495: Transgrediens et progrediens palmoplantar keratoderma
ORPHA:495: Greither disease
ORPHA:495: Keratosis extremitatum hereditaria progrediens
ORPHA:495: Keratosis palmoplantaris transgrediens et progrediens
ORPHA:495: Progressive diffuse PPK
ORPHA:495: Progressive diffuse palmoplantar keratoderma
ORPHA:495: Transgrediens et progrediens PPK
ORPHA:495274: Charcot-Marie-Tooth disease type 2T
ORPHA:495274: AR-CMT2T
ORPHA:495274: Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
ORPHA:495274: CMT2T
ORPHA:49566: Acquired purpura fulminans
ORPHA:495818: 9q33.3q34.11 microdeletion syndrome
ORPHA:495818: Del(9)(q33.3q34.11)
ORPHA:495818: Deletion 9q33.3q34.11
ORPHA:495818: Monosomy 9q33.3q34.11
ORPHA:495844: C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
ORPHA:495844: C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy
ORPHA:495844: Hypomyelinating leukodystrophy due to hikeshi deficiency
ORPHA:495875: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
ORPHA:495875: Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
ORPHA:495879: Congenital agenesis of the scrotum
ORPHA:495879: Congenital absence of the scrotum
ORPHA:495879: Congenital scrotal absence
ORPHA:495879: Congenital scrotal agenesis
ORPHA:495930: Familial monosomy 7 syndrome
ORPHA:496641: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
ORPHA:496686: Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
ORPHA:496689: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
ORPHA:496689: Kyphoscoliosis-lateral tongue atrophy-HSP syndrome
ORPHA:496693: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
ORPHA:496693: Gershoni-Baruch syndrome
ORPHA:496751: EVEN-plus syndrome
ORPHA:496751: Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome
ORPHA:496756: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
ORPHA:496790: Ocular anomalies-axonal neuropathy-developmental delay syndrome
ORPHA:496790: Harel-Yoon syndrome
ORPHA:496916: Rare genetic hyperkinetic movement disorder
ORPHA:496924: Non-inflammatory vasculopathy
ORPHA:497188: Diffuse intrinsic pontine glioma
ORPHA:497188: DIPG
ORPHA:497623: C12ORF65-related combined oxidative phosphorylation defect
ORPHA:497623: C12ORF65-related COXPD
ORPHA:497737: Epidermolytic nevus
ORPHA:497737: Epidermal nevus with epidermolytic hyperkeratosis
ORPHA:497737: Epidermolytic epidermal nevus
ORPHA:497737: Epidermolytic verrucous epidermal nevus
ORPHA:497757: MME-related autosomal dominant Charcot Marie Tooth disease type 2
ORPHA:497757: MME-related autosomal dominant CMT2
ORPHA:497757: MME-related autosomal dominant hereditary motor and sensory neuropathy type 2
ORPHA:497764: Spinocerebellar ataxia type 43
ORPHA:497764: SCA43
ORPHA:497906: Childhood-onset basal ganglia degeneration syndrome
ORPHA:497906: Lenk-Ploski syndrome
ORPHA:498: Keratosis pilaris atrophicans
ORPHA:49804: Lichen amyloidosis
ORPHA:49804: Amyloid lichen
ORPHA:49804: Lichen amyloidosus
ORPHA:498228: Phyllodes tumor of the prostate
ORPHA:498228: Cystic epithelial-stromal tumors of the prostate
ORPHA:498228: Cystosarcoma phyllodes of the prostate
ORPHA:498228: Phyllodes type of atypical prostatic hyperplasia
ORPHA:498251: Menstrual cycle-dependent periodic fever
ORPHA:498251: Luteal-phase-dependent febrile episode
ORPHA:498251: Luteal-phase-dependent periodic fever
ORPHA:498251: Menstrual cycle-dependent febrile episode
ORPHA:49827: Thiamine-responsive megaloblastic anemia syndrome
ORPHA:49827: Rogers syndrome
ORPHA:49827: TRMA
ORPHA:49827: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
ORPHA:49827: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss
ORPHA:498345: Biliary atresia and associated disorders
ORPHA:498350: Syndromic biliary atresia
ORPHA:498359: Aquagenic palmoplantar keratoderma
ORPHA:498359: Aquagenic keratoderma
ORPHA:498359: Aquagenic syringeal acrokeratoderma
ORPHA:498359: Aquagenic wrinkling of the palms
ORPHA:498359: Transient reactive papulotranslucent acrokeratoderma
ORPHA:498445: Genetic inflammatory or rheumatoid-like osteoarthropathy
ORPHA:498448: Overgrowth or tall stature syndrome with skeletal involvement
ORPHA:498451: Dysostosis with brachydactyly without extraskeletal manifestations
ORPHA:498454: Dysostosis with brachydactyly with extraskeletal manifestations
ORPHA:498457: Non-syndromic longitudinal limb defect
ORPHA:498461: Non-syndromic terminal transverse limb defect
ORPHA:498464: Non-syndromic preaxial polydactyly
ORPHA:498467: Non-syndromic postaxial polydactyly
ORPHA:498470: Non-syndromic complex polydactyly
ORPHA:498474: Hyaline fibromatosis syndrome
ORPHA:498477: Ectrodactyly with and without other manifestations
ORPHA:498481: LRP5-related primary osteoporosis
ORPHA:498485: Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
ORPHA:498488: Overgrowth syndrome with 2q37 translocation
ORPHA:498491: Non-syndromic complete hemimelia
ORPHA:498494: Mirror-image polydactyly
ORPHA:498497: Short rib-polydactyly syndrome type 5
ORPHA:498602: Sugarman brachydactyly
ORPHA:498602: Sugarman-Hager-Kulik syndrome
ORPHA:498693: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
ORPHA:498693: MYBPC1-related autosomal recessive non-lethal AMC syndrome
ORPHA:499: Kerion celsi
ORPHA:499009: Congenital syphilis
ORPHA:499009: MTCT of syphilis
ORPHA:499009: Mother-to-child transmission of syphilis
ORPHA:499047: Autoimmune/inflammatory optic neuropathy
ORPHA:499085: Chronic relapsing inflammatory optic neuritis
ORPHA:499085: CRION
ORPHA:499096: Isolated optic neuritis
ORPHA:499096: ION
ORPHA:499103: Recurrent idiopathic neuroretinitis
ORPHA:499103: RINR
ORPHA:499107: Idiopathic optic perineuritis
ORPHA:499107: Idiopathic OPN
ORPHA:499182: Pilomatrix carcinoma
ORPHA:499182: Calcified epithelial carcinoma of Malherbe
ORPHA:499182: Calcifying epitheliocarcinoma
ORPHA:499182: Malignant pilomatricoma
ORPHA:499182: Trichomatrical carcinoma
ORPHA:5: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
ORPHA:5: LCHAD deficiency
ORPHA:5: LCHADD
ORPHA:5: Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
ORPHA:50: Aicardi syndrome
ORPHA:50: Agenesis of corpus callosum with chorioretinal abnormality
ORPHA:500: Noonan syndrome with multiple lentigines
ORPHA:500: Cardiomyopathic lentiginosis
ORPHA:500: Familial multiple lentigines syndrome
ORPHA:500: LEOPARD syndrome
ORPHA:500055: Hao-Fountain syndrome due to 16p13.2 microdeletion
ORPHA:500055: Chromosome 16p13.2 deletion syndrome
ORPHA:500055: Del(16)(p13.2)
ORPHA:500055: Monosomy 16p13.2
ORPHA:500062: Infantile-onset periodic fever-panniculitis-dermatosis syndrome
ORPHA:500062: ORAS
ORPHA:500062: OTULIN deficiency
ORPHA:500062: OTULIN-related autoinflammatory syndrome
ORPHA:500062: Otulipenia
ORPHA:500095: Tall stature-intellectual disability-renal anomalies syndrome
ORPHA:500095: Thauvin-Robinet-Faivre syndrome
ORPHA:500135: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
ORPHA:500135: MARCH syndrome
ORPHA:500144: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
ORPHA:500144: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome
ORPHA:500144: PEBAS
ORPHA:500150: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ORPHA:500150: ZTTK syndrome
ORPHA:500150: Zhu-Tokita-Takenouchi-Kim syndrome
ORPHA:500159: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
ORPHA:500163: Witteveen-Kolk syndrome
ORPHA:500163: SIN3A-related intellectual disability syndrome
ORPHA:500163: WITKOS
ORPHA:500166: SIN3-related intellectual disability syndrome due to a point mutation
ORPHA:500180: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
ORPHA:500188: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
ORPHA:500464: Squamous cell carcinoma of the nasal cavity and paranasal sinuses
ORPHA:500464: Squamous cell carcinoma of the nasal cavity and sinuses
ORPHA:500478: Squamous cell carcinoma of the oropharynx
ORPHA:500533: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
ORPHA:500533: PMSE syndrome
ORPHA:500545: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
ORPHA:500548: Osteosclerotic metaphyseal dysplasia
ORPHA:501: Lafora disease
ORPHA:501: EPM2
ORPHA:501: PME type 2
ORPHA:501: Progressive myoclonic epilepsy type 2
ORPHA:501: Progressive myoclonus epilepsy type 2
ORPHA:502: Trichorhinophalangeal syndrome type 2
ORPHA:502: Langer-Giedion syndrome
ORPHA:502305: Cochleovestibular malformation
ORPHA:502318: Cochlear nerve deficiency
ORPHA:502363: Squamous cell carcinoma of the oral cavity
ORPHA:502366: Squamous cell carcinoma of the lip
ORPHA:502369: Squamous cell carcinoma of oral cavity and lip
ORPHA:502423: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
ORPHA:502423: Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome
ORPHA:502430: Weiss-Kruszka Syndrome
ORPHA:502430: Metopic ridging-ptosis-facial dysmorphism syndrome
ORPHA:502434: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
ORPHA:502437: 4q25 proximal deletion syndrome
ORPHA:502437: Proximal del(4)(q25)
ORPHA:502437: Proximal monosomy 4q25
ORPHA:502444: Alkaline ceramidase 3 deficiency
ORPHA:502444: ACER3-related early childhood-onset progressive leukodystrophy
ORPHA:502444: Leukodystrophy due to alkaline ceramidase 3 deficiency
ORPHA:502499: Erythema multiforme major
ORPHA:502499: Erythema exsudativum multiforme majus
ORPHA:502499: Erythema multiforme majus
ORPHA:50251: Pleural mesothelioma
ORPHA:503: Larsen syndrome
ORPHA:504: Creeping myiasis
ORPHA:504: Migratory myiasis
ORPHA:504476: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
ORPHA:504476: CABV syndrome
ORPHA:504476: CANVAS
ORPHA:504476: Cerebellar ataxia with bilateral vestibulopathy syndrome
ORPHA:504523: Severe combined immunodeficiency due to LAT deficiency
ORPHA:504523: SCID due to LAT deficiency
ORPHA:504530: Combined immunodeficiency due to Moesin deficiency
ORPHA:504530: CID due to Moesin deficiency
ORPHA:504530: MSN-related combined immunodeficiency
ORPHA:504530: X-linked Moesin-associated immunodeficiency
ORPHA:505: Graham Little-Piccardi-Lassueur syndrome
ORPHA:505: Graham Little syndrome
ORPHA:505: Piccardi-Lassueur-Little syndrome
ORPHA:505208: 3-methylglutaconic aciduria type 8
ORPHA:505208: MGA8
ORPHA:505216: 3-methylglutaconic aciduria type 9
ORPHA:505216: 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome
ORPHA:505216: MGA9
ORPHA:505227: Combined immunodeficiency due to GINS1 deficiency
ORPHA:505227: CID due to GINS1 deficiency
ORPHA:505227: Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia
ORPHA:505227: Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia
ORPHA:505237: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
ORPHA:505242: Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome