TaoMedAI/RareMedData huggingface dataset:
ORPHA:449563: IgG4-related ophthalmic disease
ORPHA:449566: Eosinophilic angiocentric fibrosis
ORPHA:449566: IgG4-related eosinophilic angiocentric fibrosis
ORPHA:45: Adenosine monophosphate deaminase deficiency
ORPHA:45: AMP deaminase deficiency
ORPHA:45: Myoadenylate deaminase deficiency
ORPHA:450: Heterotaxia
ORPHA:450: Heterotaxy syndrome
ORPHA:450: Lateralization defect
ORPHA:450: Visceral heterotaxy
ORPHA:450322: Polyclonal hyperviscosity syndrome
ORPHA:451602: Primary cutaneous plasmacytosis
ORPHA:451607: Cutaneous pseudolymphoma
ORPHA:451612: Familial congenital nasolacrimal duct obstruction
ORPHA:452: X-linked lissencephaly with abnormal genitalia
ORPHA:452: X-linked lissencephaly with ambiguous genitalia
ORPHA:452: X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
ORPHA:452: XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
ORPHA:453499: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
ORPHA:453499: Au-Kline syndrome
ORPHA:453499: HNRNPK-related neurodevelopmental disorder
ORPHA:453499: Okamoto syndrome
ORPHA:453504: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
ORPHA:453510: Congenital insensitivity to pain with severe intellectual disability
ORPHA:453510: Congenital absence of pain with severe intellectual disability
ORPHA:453510: Congenital analgesia with severe intellectual disability
ORPHA:453510: Congenital insensitivity to pain with preserved temperature sensation
ORPHA:453510: Congenital insensitivity to pain with severe non-progressive cognitive delay
ORPHA:453521: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
ORPHA:453521: SCAR17
ORPHA:453521: Spinocerebellar ataxia autosomal recessive type 17
ORPHA:453533: Polyendocrine-polyneuropathy syndrome
ORPHA:45358: Congenital fibrosis of extraocular muscles
ORPHA:45358: FEOM
ORPHA:454: Acquired ichthyosis
ORPHA:45448: Miyoshi myopathy
ORPHA:45452: Idiopathic neonatal atrial flutter
ORPHA:45453: Incessant infant ventricular tachycardia
ORPHA:454700: Acquired Creutzfeldt-Jakob disease
ORPHA:454706: Progressive muscular atrophy
ORPHA:454706: PMA
ORPHA:454710: Anti-p200 pemphigoid
ORPHA:454714: Plasma cell leukemia
ORPHA:454714: PCL
ORPHA:454718: Holmes-Adie syndrome
ORPHA:454718: Adie syndrome
ORPHA:454718: Tonic pupil-tendon areflexia syndrome
ORPHA:454723: Endometrioid carcinoma of ovary
ORPHA:454742: Variably protease-sensitive prionopathy
ORPHA:454745: Kuru
ORPHA:454750: Isolated tracheoesophageal fistula
ORPHA:454750: H-type tracheoesophageal fistula
ORPHA:454831: Acute radiation syndrome
ORPHA:454831: Acute radiation sickness
ORPHA:454836: Avian influenza
ORPHA:454840: NTHL1-related attenuated familial adenomatous polyposis
ORPHA:454840: NTHL1-related AFAP
ORPHA:454840: NTHL1-related attenuated FAP
ORPHA:454887: Corticobasal syndrome
ORPHA:455: Superficial epidermolytic ichthyosis
ORPHA:455: Ichthyosis bullosa of Siemens
ORPHA:455: SEI
ORPHA:456298: 1p35.2 microdeletion syndrome
ORPHA:456298: Del(1)(p35.2)
ORPHA:456298: Deletion 1p35.2
ORPHA:456298: Monosomy 1p35.2
ORPHA:456312: Infantile multisystem neurologic-endocrine-pancreatic disease
ORPHA:456312: IMNEPD
ORPHA:456318: Hereditary sensory neuropathy-deafness-dementia syndrome
ORPHA:456318: HSAN1E
ORPHA:456318: HSN1E
ORPHA:456318: Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome
ORPHA:456328: X-linked myotubular myopathy-abnormal genitalia syndrome
ORPHA:456328: Xq28 contiguous gene deletion syndrome
ORPHA:456333: Hereditary neuroendocrine tumor of small intestine
ORPHA:456333: Hereditary SB-NET
ORPHA:456333: Hereditary SI-NET
ORPHA:456333: Hereditary neuroendocrine tumor of small bowel
ORPHA:456333: Small bowel hereditary neuroendocrine tumor
ORPHA:456333: Small intestine hereditary neuroendocrine tumor
ORPHA:456369: Polyglucosan body myopathy type 2
ORPHA:457: Harlequin ichthyosis
ORPHA:457: Autosomal congenital ichthyosis, Harlequin type
ORPHA:457: HI
ORPHA:457: Ichthyosis congenita, Harlequin type
ORPHA:457050: Autosomal dominant mitochondrial myopathy with exercise intolerance
ORPHA:457059: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
ORPHA:457062: Pseudohypoparathyroidism without Albright hereditary osteodystrophy
ORPHA:457074: Congenital nemaline myopathy
ORPHA:457077: TAFRO syndrome
ORPHA:457077: Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome
ORPHA:457083: Isolated splenogonadal fusion
ORPHA:457083: SGF
ORPHA:457088: Predisposition to invasive fungal disease due to CARD9 deficiency
ORPHA:457088: Invasive candidiasis-deep dermatophytosis syndrome
ORPHA:457095: Actinomycosis
ORPHA:457185: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
ORPHA:457185: COQ4-related neonatal encephalomyopathy
ORPHA:457193: KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
ORPHA:457193: Arboleda-Tham syndrome
ORPHA:457193: KAT6A syndrome
ORPHA:457205: Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
ORPHA:457205: ANOAC
ORPHA:457205: Axonal neuropathy-optic atrophy-cognitive deficit syndrome
ORPHA:457212: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
ORPHA:457223: Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
ORPHA:457223: Syndromic sensorineural deafness due to COXPD
ORPHA:457223: Syndromic sensorineural hearing loss due to COXPD
ORPHA:457240: X-linked intellectual disability-short stature-overweight syndrome
ORPHA:457246: Clear cell sarcoma of kidney
ORPHA:457246: CCSK
ORPHA:457260: X-linked intellectual disability-hypotonia-movement disorder syndrome
ORPHA:457265: Progressive myoclonic epilepsy type 9
ORPHA:457265: EPM9
ORPHA:457265: PME type 9
ORPHA:457265: Progressive myoclonic epilepsy due to LMNB2 deficiency
ORPHA:457265: Progressive myoclonus epilepsy type 9
ORPHA:457279: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
ORPHA:457284: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
ORPHA:457351: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
ORPHA:457351: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
ORPHA:457359: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
ORPHA:457365: Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
ORPHA:457375: ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
ORPHA:457375: Martsolf-like syndrome
ORPHA:457378: Complex lethal osteochondrodysplasia
ORPHA:457378: Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type
ORPHA:457395: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
ORPHA:457406: Multiple mitochondrial dysfunctions syndrome type 4
ORPHA:457406: MMDS4
ORPHA:457485: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
ORPHA:457485: MINDS syndrome
ORPHA:457485: Smith-Kingsmore syndrome
ORPHA:458718: Idiopathic spontaneous coronary artery dissection
ORPHA:458718: Idiopathic SCAD
ORPHA:458758: Composite hemangioendothelioma
ORPHA:458763: Retiform hemangioendothelioma
ORPHA:458768: Papillary intralymphatic angioendothelioma
ORPHA:458768: Dabska tumor
ORPHA:458768: PILA
ORPHA:458768: Primary intralymphatic angioendothelioma
ORPHA:458775: Congenital hemangioma
ORPHA:458785: Partially involuting congenital hemangioma
ORPHA:458792: Mixed cystic lymphatic malformation
ORPHA:458792: Mixed cystic lymphangioma
ORPHA:458798: Spinocerebellar ataxia type 41
ORPHA:458798: SCA41
ORPHA:458803: Spinocerebellar ataxia type 42
ORPHA:458803: SCA42
ORPHA:458830: Rare capillary malformation with associated anomalies
ORPHA:458833: Common cystic lymphatic malformation
ORPHA:458837: Rare combined vascular malformation
ORPHA:458844: Rare vascular malformation of major vessels
ORPHA:459033: Ataxia-oculomotor apraxia type 4
ORPHA:459033: AOA4
ORPHA:459051: Spondyloepiphyseal dysplasia, Stanescu type
ORPHA:459051: SED, Stanescu type
ORPHA:459056: Autosomal recessive spastic paraplegia type 75
ORPHA:459056: SPG75
ORPHA:459061: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
ORPHA:459061: Developmental delay-short stature-dysmorphic features-sparse hair syndrome
ORPHA:459061: Loucks-Innes syndrome
ORPHA:459070: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
ORPHA:459074: Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
ORPHA:459074: 7q36.3 microduplication syndrome
ORPHA:459074: Dup(7)(q36.3)
ORPHA:459345: Immunodeficiency due to a complement cascade component deficiency
ORPHA:459348: Immunodeficiency due to a complement regulatory deficiency
ORPHA:459526: Rare genetic capillary malformation
ORPHA:459537: Genetic complex vascular malformation with associated anomalies
ORPHA:459537: Genetic hemangiolymphangioma
ORPHA:459543: Rare genetic vascular tumor
ORPHA:459548: Rare genetic venous malformation
ORPHA:459787: Lethal multiple congenital anomalies/dysmorphic syndrome
ORPHA:46: Adenylosuccinate lyase deficiency
ORPHA:46: ADSL deficiency
ORPHA:46: Adenylosuccinase deficiency
ORPHA:46059: Lathosterolosis
ORPHA:46059: Sterol C5-desaturase deficiency
ORPHA:461: Recessive X-linked ichthyosis
ORPHA:461: RXLI
ORPHA:461: Steroid sulfatase deficiency
ORPHA:461: X-linked ichthyosis
ORPHA:461: XLI
ORPHA:46135: Primary central nervous system lymphoma
ORPHA:46135: PCNSL
ORPHA:46135: Primary CNS lymphoma
ORPHA:46135: Primary brain lymphoma
ORPHA:46348: Paroxysmal extreme pain disorder
ORPHA:46348: Familial rectal pain
ORPHA:464: Incontinentia pigmenti
ORPHA:464: Bloch-Siemens syndrome
ORPHA:464: Bloch-Sulzberger syndrome
ORPHA:464282: Spastic paraplegia-severe developmental delay-epilepsy syndrome
ORPHA:464282: SPPRS syndrome
ORPHA:464282: Spastic paraplegia-psychomotor retardation-seizures syndrome
ORPHA:464288: Short stature-brachydactyly-obesity-global developmental delay syndrome
ORPHA:464288: SBIDDS
ORPHA:464306: DYRK1A-related intellectual disability syndrome
ORPHA:464306: DYRK1A syndrome
ORPHA:464311: Intellectual disability syndrome due to a DYRK1A point mutation
ORPHA:464311: DYRK1A-related intellectual disability syndrome due to a point mutation
ORPHA:464318: Verrucous hemangioma
ORPHA:464321: Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
ORPHA:464321: Cutaneovisceral angiomatosis-thrombocytopenia syndrome
ORPHA:464321: MLT
ORPHA:464321: Multifocal lymphangioendotheliomatosis with thrombocytopenia
ORPHA:464329: Kaposiform lymphangiomatosis
ORPHA:464336: BENTA disease
ORPHA:464336: B-cell expansion with NF-kB and T-cell anergy disease
ORPHA:464343: Catastrophic antiphospholipid syndrome
ORPHA:464343: CAPS
ORPHA:464343: Catastrophic APS
ORPHA:464359: Benign metanephric tumor
ORPHA:464366: NEK9-related lethal skeletal dysplasia
ORPHA:464366: Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
ORPHA:464370: Neonatal alloimmune neutropenia
ORPHA:464440: Primary dystonia, DYT27 type
ORPHA:464443: COG6-CGD
ORPHA:464443: CDG syndrome type IIL
ORPHA:464443: CDG-IIL
ORPHA:464443: CDG2L
ORPHA:464443: Congenital disorder of glycosylation type 2l
ORPHA:464443: Congenital disorder of glycosylation type IIL
ORPHA:464453: Acquired methemoglobinemia
ORPHA:464453: Drug-induced methemoglobinemia
ORPHA:464458: Paracetamol poisoning
ORPHA:464458: Acetaminophen poisoning
ORPHA:464724: Fever-associated acute infantile liver failure syndrome
ORPHA:464738: Basel-Vanagaite-Smirin-Yosef syndrome
ORPHA:464756: Familial gastric type 1 neuroendocrine tumor
ORPHA:464760: Familial cavitary optic disc anomaly
ORPHA:464760: Familial CODA
ORPHA:464764: Immune-mediated acquired neuromuscular junction disease
ORPHA:46484: Oligodendroglial tumor
ORPHA:46485: Superficial pemphigus
ORPHA:46486: Mucous membrane pemphigoid
ORPHA:46486: Cicatricial pemphigoid
ORPHA:46486: Mucosal pemphigoid
ORPHA:46486: Mucosynechial pemphigoid
ORPHA:46487: Epidermolysis bullosa acquisita
ORPHA:46487: Acquired epidermolysis bullosa
ORPHA:46488: Linear IgA dermatosis
ORPHA:465: Congenital plasminogen activator inhibitor type 1 deficiency
ORPHA:465: Congenital PAI-1 deficiency
ORPHA:46532: Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
ORPHA:46532: HPFH-beta-thalassemia syndrome
ORPHA:465508: Symptomatic form of HFE-related hemochromatosis
ORPHA:465508: Symptomatic form of classic hemochromatosis
ORPHA:465508: Symptomatic form of hemochromatosis type 1
ORPHA:465824: Fetal encasement syndrome
ORPHA:466: Fatal familial insomnia
ORPHA:466: FFI
ORPHA:466026: Class I glucose-6-phosphate dehydrogenase deficiency
ORPHA:466026: Class I G6PD deficiency
ORPHA:466026: Severe hemolytic anemia due to G6PD deficiency
ORPHA:466066: Genetic hemoglobinopathy
ORPHA:466084: Genetic otorhinolaryngologic disease
ORPHA:46627: Char syndrome
ORPHA:46627: Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
ORPHA:466650: Exercise-induced malignant hyperthermia
ORPHA:466650: Exertional heat stroke
ORPHA:466658: Rare disease with malignant hyperthermia
ORPHA:466670: Cyanide poisoning
ORPHA:466677: Scorpion envenomation
ORPHA:466682: Euthyroid Graves orbitopathy
ORPHA:466682: Euthyroid Graves ophthalmopathy
ORPHA:466688: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
ORPHA:466695: Supratip dysplasia
ORPHA:466703: TMEM199-CDG
ORPHA:466703: CDG syndrome type IIp
ORPHA:466703: CDG-IIp
ORPHA:466703: CDG2P
ORPHA:466703: Carbohydrate deficient glycoprotein syndrome type IIp
ORPHA:466703: Congenital disorder of glycosylation type 2p
ORPHA:466703: Congenital disorder of glycosylation type IIp
ORPHA:466718: Martinique crinkled retinal pigment epitheliopathy
ORPHA:466718: MCRPE
ORPHA:466722: Autosomal recessive spastic paraplegia type 77
ORPHA:466722: SPG77
ORPHA:466729: Familial patent arterial duct
ORPHA:466768: Autosomal dominant Charcot-Marie-Tooth disease type 2Z
ORPHA:466768: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
ORPHA:466768: CMT2Z
ORPHA:466775: Autosomal recessive Charcot-Marie-Tooth disease type 2X
ORPHA:466775: ARCMT2X
ORPHA:466775: Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation
ORPHA:466775: CMT2X
ORPHA:466784: Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
ORPHA:466784: COXPD28
ORPHA:466784: Combined oxidative phosphorylation defect type 28
ORPHA:466791: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
ORPHA:466794: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
ORPHA:466794: Autosomal recessive spinocerebellar ataxia type 21
ORPHA:466794: SCAR21
ORPHA:466806: Autosomal dominant thrombocytopenia with platelet secretion defect
ORPHA:466921: Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
ORPHA:466926: Seizures-scoliosis-macrocephaly syndrome
ORPHA:466926: SSM syndrome
ORPHA:466934: VPS11-related autosomal recessive hypomyelinating leukodystrophy
ORPHA:466934: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy
ORPHA:466943: WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
ORPHA:466943: DESSH
ORPHA:466943: Desanto-Shinawi syndrome
ORPHA:466950: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
ORPHA:466950: Desanto-Shinawi syndrome due to WAC point mutation
ORPHA:466962: SMARCA4-deficient sarcoma of thorax
ORPHA:466962: SMARCA4-deficient thoracic sarcoma
ORPHA:467: Non-acquired combined pituitary hormone deficiency
ORPHA:467: Congenital combined pituitary hormone deficiency
ORPHA:467: Congenital hypopituitarism
ORPHA:467166: Tubulinopathy-associated dysgyria
ORPHA:467166: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
ORPHA:467176: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
ORPHA:46724: Cerebral arteriovenous malformation
ORPHA:46724: Intracranial arteriovenous malformation
ORPHA:468620: Intellectual disability-epilepsy-extrapyramidal syndrome
ORPHA:468631: Microcephalic cortical malformations-short stature due to RTTN deficiency
ORPHA:468635: Cryptogenic multifocal ulcerous stenosing enteritis
ORPHA:468635: CMUSE
ORPHA:468641: Chronic enteropathy associated with SLCO2A1 gene
ORPHA:468641: CEAS
ORPHA:468661: Autosomal recessive spastic paraplegia type 74
ORPHA:468661: SPG74
ORPHA:468666: Isolated generalized anhidrosis with normal sweat glands
ORPHA:468672: Colobomatous macrophthalmia-microcornea syndrome
ORPHA:468672: MACOM syndrome
ORPHA:468678: White-Sutton syndrome
ORPHA:468678: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
ORPHA:468684: CCDC115-CDG
ORPHA:468684: CDG syndrome type IIo
ORPHA:468684: CDG-IIo
ORPHA:468684: CDG2O
ORPHA:468684: Carbohydrate deficient glycoprotein syndrome type IIo
ORPHA:468684: Congenital disorder of glycosylation type 2o
ORPHA:468684: Congenital disorder of glycosylation type IIo
ORPHA:468699: SLC39A8-CDG
ORPHA:468699: CDG syndrome type IIn
ORPHA:468699: CDG-IIn
ORPHA:468699: CDG2N
ORPHA:468699: Carbohydrate deficient glycoprotein syndrome type IIn
ORPHA:468699: Congenital disorder of glycosylation type 2n
ORPHA:468699: Congenital disorder of glycosylation type IIn
ORPHA:468699: SLC39A8 deficiency
ORPHA:468717: Rhizomelic chondrodysplasia punctata type 5
ORPHA:468726: Severe primary trimethylaminuria
ORPHA:468726: TMAU
ORPHA:469: Hereditary fructose intolerance
ORPHA:469: Hereditary fructose-1-phosphate aldolase deficiency
ORPHA:469: Hereditary fructosemia
ORPHA:47: X-linked agammaglobulinemia
ORPHA:47: BTK-deficiency
ORPHA:47: Bruton type agammaglobulinemia
ORPHA:470: Lysinuric protein intolerance
ORPHA:470: Hyperdibasic aminoaciduria
ORPHA:470: LPI
ORPHA:47044: Hereditary papillary renal cell carcinoma
ORPHA:47044: HPRC
ORPHA:47045: Familial cold urticaria
ORPHA:47045: FCAS
ORPHA:47045: FCU
ORPHA:47045: Familial cold autoinflammatory syndrome
ORPHA:471383: Genetic lethal multiple congenital anomalies/dysmorphic syndrome
ORPHA:47159: Proximal renal tubular acidosis
ORPHA:47159: Renal tubular acidosis type 2
ORPHA:47159: pRTA
ORPHA:472: Isosporiasis
ORPHA:472: Cystoisosporiasis
ORPHA:474: Jeune syndrome
ORPHA:474: Asphyxiating thoracic dystrophy of the newborn
ORPHA:474: JATD
ORPHA:474: Jeune asphyxiating thoracic dystrophy
ORPHA:474347: Rare congenital anomaly of ventricular septum
ORPHA:474347: Congenital anomaly of interventricular communication
ORPHA:474347: Congenital ventricular septal anomaly
ORPHA:475: Joubert syndrome
ORPHA:475: CPD IV
ORPHA:475: Cerebelloparenchymal disorder IV
ORPHA:475: Classic Joubert syndrome
ORPHA:475: Joubert syndrome type A
ORPHA:475: Joubert-Boltshauser syndrome
ORPHA:475: Pure Joubert syndrome
ORPHA:476084: BVES-related limb-girdle muscular dystrophy
ORPHA:476084: Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome
ORPHA:476084: BVES-related LGMD
ORPHA:476084: LGMD R25 BVES-related
ORPHA:476084: LGMD type 2X
ORPHA:476084: LGMD2X
ORPHA:476084: Limb-girdle muscular dystrophy 2X
ORPHA:476093: Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
ORPHA:476096: Erythrokeratodermia-cardiomyopathy syndrome
ORPHA:476096: EKC syndrome
ORPHA:476109: Axonal hereditary motor and sensory neuropathy
ORPHA:476109: Axonal HMSN
ORPHA:476113: Combined immunodeficiency due to TFRC deficiency
ORPHA:476113: CID due to TFRC deficiency
ORPHA:476113: TFRC-related combined immunodeficiency
ORPHA:476116: Demyelinating hereditary motor and sensory neuropathy
ORPHA:476116: Demyelinating HMSN
ORPHA:476119: Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
ORPHA:47612: Felty syndrome
ORPHA:47612: Splenomegaly-neutropenia-rheumatoid arthritis syndrome
ORPHA:476123: Intermediate Charcot-Marie-Tooth disease
ORPHA:476123: Intermediate CMT
ORPHA:476123: Intermediate hereditary motor and sensory neuropathy
ORPHA:476126: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
ORPHA:476394: PMP2-related Charcot-Marie-Tooth disease type 1
ORPHA:476394: PMP2-related CMT1
ORPHA:476394: PMP2-related Charcot-Marie-Tooth neuropathy type 1
ORPHA:476394: PMP2-related hereditary motor and sensory neuropathy type 1
ORPHA:476403: Hypercontractile muscle stiffness syndrome
ORPHA:476406: Congenital generalized hypercontractile muscle stiffness syndrome
ORPHA:477: KID syndrome
ORPHA:477: Ichthyosis hystrix Rheydt type
ORPHA:477: KID/HID syndrome
ORPHA:477: Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
ORPHA:477: Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
ORPHA:477: Senter syndrome
ORPHA:477647: Type 1 interferonopathy
ORPHA:477650: Fibroblastic rheumatism
ORPHA:477661: IL21-related infantile inflammatory bowel disease
ORPHA:477661: IL21-related infantile IBD
ORPHA:477673: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
ORPHA:477684: Combined oxidative phosphorylation defect type 26
ORPHA:477684: COXPD26
ORPHA:477738: Pediatric multiple sclerosis
ORPHA:477742: Nodular fasciitis
ORPHA:477742: Pseudosarcomatous fasciitis
ORPHA:477742: Pseudosarcomatous fibromatosis
ORPHA:477749: Pontine autosomal dominant microangiopathy with leukoencephalopathy
ORPHA:477749: PADMAL
ORPHA:477754: Genetic cerebral small vessel disease
ORPHA:477759: COL4A1 or COL4A2-related cerebral small vessel disease
ORPHA:477759: COL4A1 or COL4A2-related cerebral angiopathy
ORPHA:477762: COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency
ORPHA:477762: COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency
ORPHA:477765: COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency
ORPHA:477765: COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency
ORPHA:477768: Moyamoya angiopathy
ORPHA:477771: Rare disorder with a moyamoya angiopathy
ORPHA:477774: Combined oxidative phosphorylation defect type 27
ORPHA:477774: COXPD27
ORPHA:477781: Primary condylar hyperplasia
ORPHA:477781: Type 1 condylar hyperplasia
ORPHA:477787: Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
ORPHA:477787: PLA2G4A-related platelet dysfunction
ORPHA:477787: Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency
ORPHA:477794: Syndromic constitutional thrombocytopenia
ORPHA:477797: Isolated constitutional thrombocytopenia
ORPHA:477797: Constitutional thrombocytopenia without extra-hematopoietic manifestations
ORPHA:477797: Non-syndromic constitutional thrombocytopenia
ORPHA:477805: Genetic cardiac malformation
ORPHA:477808: Other genetic dermis disorder
ORPHA:477811: Rare hypercholesterolemia
ORPHA:477814: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
ORPHA:477817: PMP22-RAI1 contiguous gene duplication syndrome
ORPHA:477817: 17p11.2p12 microduplication syndrome
ORPHA:477817: Dup(17)(p11.2p12)
ORPHA:477817: Trisomy 17p11.2-p12
ORPHA:477817: Trisomy 17p11.2p12
ORPHA:477817: Yuan-Harel-Lupski syndrome
ORPHA:477831: Kosaki overgrowth syndrome
ORPHA:477831: Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
ORPHA:477857: Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
ORPHA:477857: MSMD due to complete RORgamma receptor defiency
ORPHA:477857: Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency
ORPHA:477857: Primary immunodeficiency due to RORC mutation
ORPHA:477993: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
ORPHA:477993: Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
ORPHA:478: Kallmann syndrome
ORPHA:478: Congenital hypogonadotropic hypogonadism with anosmia
ORPHA:478: Olfacto-genital pathological sequence