TaoMedAI/RareMedData huggingface dataset:
ORPHA:96148: Monosomy 10qter
ORPHA:96148: Telomeric deletion 10q
ORPHA:96149: Distal deletion 12q syndrome
ORPHA:96149: Distal monosomy 12q
ORPHA:96149: Monosomy 12qter
ORPHA:96149: Telomeric deletion 12q
ORPHA:96150: Distal deletion 14q syndrome
ORPHA:96150: Distal monosomy 14q
ORPHA:96150: Telomeric deletion 14q
ORPHA:96160: Non-distal deletion 12q syndrome
ORPHA:96160: Non-distal monosomy 12q
ORPHA:96160: Non-telomeric monosomy 12q
ORPHA:96167: Recombinant 8 syndrome
ORPHA:96167: Duplication 8q/deletion 8p
ORPHA:96167: Rec(8) syndrome
ORPHA:96167: Rec8 syndrome
ORPHA:96167: Recombinant chromosome 8 syndrome
ORPHA:96167: San Luis Valley syndrome
ORPHA:96168: Monosomy 13q34 syndrome
ORPHA:96168: Del(13)(q34)
ORPHA:96168: Distal deletion 13q34
ORPHA:96168: Subtelomeric deletion 13q34
ORPHA:96169: Koolen-De Vries syndrome
ORPHA:96169: KdVS
ORPHA:96170: Emanuel syndrome
ORPHA:96170: Der(22)t(11;22) syndrome
ORPHA:96170: Supernumerary der(22) syndrome
ORPHA:96171: Ring chromosome 2 syndrome
ORPHA:96171: Ring 2
ORPHA:96171: Ring chromosome 2
ORPHA:96172: Ring chromosome 3 syndrome
ORPHA:96172: Ring 3
ORPHA:96172: Ring chromosome 3
ORPHA:96173: Ring chromosome 9 syndrome
ORPHA:96173: Ring 9
ORPHA:96173: Ring chromosome 9
ORPHA:96175: Ring chromosome 11 syndrome
ORPHA:96175: RC11
ORPHA:96175: Ring 11
ORPHA:96175: Ring chromosome 11
ORPHA:96175: r(11) syndrome
ORPHA:96176: Ring chromosome 13 syndrome
ORPHA:96176: Ring 13
ORPHA:96176: Ring chromosome 13
ORPHA:96177: Ring chromosome 15 syndrome
ORPHA:96177: Ring 15
ORPHA:96177: Ring chromosome 15
ORPHA:96178: Ring chromosome 16 syndrome
ORPHA:96178: Ring 16
ORPHA:96178: Ring chromosome 16
ORPHA:96179: Maternal uniparental disomy of chromosome 2 syndrome
ORPHA:96179: UPD(2)mat
ORPHA:96180: Maternal uniparental disomy of chromosome 4 syndrome
ORPHA:96180: UPD(4)mat
ORPHA:96181: Maternal uniparental disomy of chromosome 6 syndrome
ORPHA:96181: UPD(6)mat
ORPHA:96182: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
ORPHA:96182: UPD(7)mat
ORPHA:96183: Maternal uniparental disomy of chromosome 9 syndrome
ORPHA:96183: UPD(9)mat
ORPHA:96184: Temple syndrome due to maternal uniparental disomy of chromosome 14
ORPHA:96184: UPD(14)mat
ORPHA:96185: Maternal uniparental disomy of chromosome 16 syndrome
ORPHA:96185: UPD(16)mat
ORPHA:96186: Maternal uniparental disomy of chromosome 20 syndrome
ORPHA:96186: Maternal UPD(20)
ORPHA:96186: UPD(20)mat
ORPHA:96187: Maternal uniparental disomy of chromosome 21 syndrome
ORPHA:96187: UPD(21)mat
ORPHA:96188: Maternal uniparental disomy of chromosome 22 syndrome
ORPHA:96188: UPD(22)mat
ORPHA:96190: Paternal uniparental disomy of chromosome 5 syndrome
ORPHA:96190: UPD(5)pat
ORPHA:96191: Paternal uniparental disomy of chromosome 6 syndrome
ORPHA:96191: UPD(6)pat
ORPHA:96192: Paternal uniparental disomy of chromosome 7 syndrome
ORPHA:96192: UPD(7)pat
ORPHA:96193: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
ORPHA:96193: Mosaic paternal uniparental disomy of chromosome 11
ORPHA:96193: UPD(11)pat
ORPHA:96194: Paternal uniparental disomy of chromosome 20 syndrome
ORPHA:96194: Paternal UPD(20)
ORPHA:96194: UPD(20)pat
ORPHA:96195: Paternal uniparental disomy of chromosome 21 syndrome
ORPHA:96195: UPD(21)pat
ORPHA:96201: X small rings syndrome
ORPHA:96210: Rare genetic deafness
ORPHA:96210: Rare genetic hearing loss
ORPHA:96253: Cushing disease
ORPHA:96253: Corticotroph pituitary adenoma
ORPHA:96253: Pituitary corticotroph micro-adenoma
ORPHA:96253: Pituitary-dependent Cushing syndrome
ORPHA:96256: Somatotropic adenoma
ORPHA:96256: Somatotropinoma
ORPHA:96263: 48,XXXY syndrome
ORPHA:96264: 49,XXXXY syndrome
ORPHA:96265: Leydig cell hypoplasia due to complete LH resistance
ORPHA:96265: 46,XY DSD due to complete LH receptor inactivation
ORPHA:96265: 46,XY DSD due to complete LH resistance
ORPHA:96265: 46,XY DSD due to complete luteinizing hormone receptor inactivation
ORPHA:96265: 46,XY DSD due to complete luteinizing hormone resistance
ORPHA:96265: 46,XY disorder of sex development due to complete LH receptor inactivation
ORPHA:96265: 46,XY disorder of sex development due to complete LH resistance
ORPHA:96265: 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation
ORPHA:96265: 46,XY disorder of sex development due to complete luteinizing hormone resistance
ORPHA:96265: Leydig cell hypoplasia due to complete LH receptor inactivation
ORPHA:96265: Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation
ORPHA:96265: Leydig cell hypoplasia due to complete luteinizing hormone resistance
ORPHA:96266: Leydig cell hypoplasia due to partial LH resistance
ORPHA:96266: 46,XY DSD due to partial LH receptor inactivation
ORPHA:96266: 46,XY DSD due to partial LH resistance
ORPHA:96266: 46,XY DSD due to partial luteinizing hormone resistance
ORPHA:96266: 46,XY disorder of sex developement due to partial LH receptor inactivation
ORPHA:96266: 46,XY disorder of sex developement due to partial LH resistance
ORPHA:96266: 46,XY disorder of sex developement due to partial luteinizing hormone resistance
ORPHA:96266: Leydig cell hypoplasia due to partial LH receptor inactivation
ORPHA:96266: Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation
ORPHA:96266: Leydig cell hypoplasia due to partial luteinizing hormone resistance
ORPHA:96269: Isolated partial vaginal agenesis
ORPHA:96269: Congenital absence of vagina
ORPHA:963: Acromegaly
ORPHA:96321: Polyploidy syndrome
ORPHA:96325: Isochromosome Y syndrome
ORPHA:96333: Rare otorhinolaryngological malformation
ORPHA:96334: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
ORPHA:96334: UPD(14)pat
ORPHA:96344: Rare gynecologic or obstetric disease
ORPHA:96346: Anorectal malformation
ORPHA:96346: ARM
ORPHA:968: Acromesomelic dysplasia, Hunter-Thompson type
ORPHA:968: Acromesomelic dwarfism
ORPHA:969: Acromicric dysplasia
ORPHA:97: Familial paroxysmal ataxia
ORPHA:97: Episodic ataxia type 2
ORPHA:970: Hereditary sensory and autonomic neuropathy type 2
ORPHA:970: Autosomal recessive sensory radicular neuropathy
ORPHA:970: HSAN2
ORPHA:970: Hereditary sensory and autonomic neuropathy type II
ORPHA:970: Neurogenic acroosteolysis
ORPHA:971: Acrorenal syndrome
ORPHA:97120: Distal arthrogryposis
ORPHA:972: Hereditary continuous muscle fiber activity
ORPHA:97214: Eisenmenger syndrome
ORPHA:97229: Riboflavin transporter deficiency
ORPHA:97229: Brown-Vialetto-van Laere syndrome
ORPHA:97230: Solar urticaria
ORPHA:97232: Fingerprint body myopathy
ORPHA:97234: Glycogen storage disease due to phosphoglycerate mutase deficiency
ORPHA:97234: DiMauro disease
ORPHA:97234: GSD due to phosphoglycerate mutase 2 deficiency
ORPHA:97234: GSD type 10
ORPHA:97234: Glycogen storage disease due to PGAM2 deficiency
ORPHA:97234: Glycogen storage disease due to phosphoglycerate mutase 2 deficiency
ORPHA:97234: Glycogen storage disease, type 10
ORPHA:97234: Glycogen storage disease, type X
ORPHA:97234: Glycogenosis due to phosphoglycerate mutase 2 deficiency
ORPHA:97234: Muscle phosphoglycerate mutase deficiency
ORPHA:97234: Myopathy due to phosphoglycerate mutase deficiency
ORPHA:97234: PGAM deficiency
ORPHA:97234: PGAM-M  deficiency
ORPHA:97238: Rippling muscle disease
ORPHA:97239: Reducing body myopathy
ORPHA:97240: Zebra body myopathy
ORPHA:97242: Congenital muscular dystrophy
ORPHA:97242: CMD
ORPHA:97242: MDC
ORPHA:97244: Rigid spine syndrome
ORPHA:97244: Rigid spine congenital muscular dystrophy
ORPHA:97245: Congenital myopathy
ORPHA:97249: Pontocerebellar hypoplasia type 3
ORPHA:97249: Cerebellar atrophy with progressive microcephaly
ORPHA:97249: PCH3
ORPHA:97252: Mega-cisterna magna
ORPHA:97253: Neuroendocrine tumor of pancreas
ORPHA:97253: PNET
ORPHA:97253: Pancreatic NET
ORPHA:97253: Pancreatic neuroendocrine tumor
ORPHA:97253: Well-differentiated NEN of pancreas
ORPHA:97253: Well-differentiated neuroendocrine neoplasm of pancreas
ORPHA:97253: Well-differentiated pancreatic NEN
ORPHA:97253: Well-differentiated pancreatic neuroendocrine neoplasm
ORPHA:97261: GRFoma
ORPHA:97261: GRF tumor
ORPHA:97261: Growth hormone releasing factor tumor
ORPHA:97275: Encephalitis
ORPHA:97278: PPoma
ORPHA:97278: Pancreatic polypeptidoma
ORPHA:97279: Insulinoma
ORPHA:97280: Glucagonoma
ORPHA:97280: Glucagonoma syndrome
ORPHA:97282: VIPoma
ORPHA:97282: Diarrheogenic islet cell tumor
ORPHA:97282: Pancreatic cholera
ORPHA:97282: VIP-secreting tumor
ORPHA:97282: Verner-Morrison syndrome
ORPHA:97282: WDHA syndrome
ORPHA:97282: Watery diarrhea-hypokalemia-achlorhydria syndrome
ORPHA:97283: Somatostatinoma
ORPHA:97285: Thyroid lymphoma
ORPHA:97286: Carney-Stratakis syndrome
ORPHA:97286: Carney dyad
ORPHA:97286: Carney-Stratakis dyad
ORPHA:97286: GIST-paraganglioma dyad
ORPHA:97286: Paraganglioma and gastric stromal sarcoma
ORPHA:97287: Bronchial neuroendocrine tumor
ORPHA:97287: Bronchial NET
ORPHA:97289: Thymic neuroendocrine tumor
ORPHA:97290: Familial papillary thyroid carcinoma with renal papillary neoplasia
ORPHA:97290: PTC-RCC
ORPHA:97292: Cardiogenic shock
ORPHA:97293: Rare benign ovarian tumor
ORPHA:97297: Bohring-Opitz syndrome
ORPHA:97297: BOS syndrome
ORPHA:97297: Bohring syndrome
ORPHA:97297: C-like syndrome
ORPHA:97297: Oberklaid-Danks syndrome
ORPHA:97297: Opitz trigonocephaly-like syndrome
ORPHA:973: Isolated absence/hypoplasia of fingers excluding thumb, unilateral
ORPHA:973: Isolated congenital adactyly of hand, unilateral
ORPHA:973: Isolated digits 2-5 hypodactyly, unilateral
ORPHA:973: Isolated digits 2-5 oligodactyly, unilateral
ORPHA:97330: Thoracic outlet syndrome
ORPHA:97330: TOS
ORPHA:97330: Thoracic outlet compression syndrome
ORPHA:97332: Kienbock disease
ORPHA:97332: Aseptic necrosis of the lunate bone
ORPHA:97332: Lunatomalacia
ORPHA:97332: Osteochondrosis of the lunate bone
ORPHA:97332: Progressive avascular necrosis of the lunate bone
ORPHA:97335: Osgood-Schlatter disease
ORPHA:97335: Aseptic necrosis of the tibial tubercle
ORPHA:97335: Osteochondrosis of the tibial tubercle
ORPHA:97336: Panner disease
ORPHA:97336: Aseptic necrosis of the capital humerus
ORPHA:97336: Osteochondrosis of the capital humerus
ORPHA:97337: Sinding-Larsen-Johansson disease
ORPHA:97337: Aseptic necrosis of patella
ORPHA:97337: Osteochondrosis of patella
ORPHA:97338: Melanoma of soft tissue
ORPHA:97338: Clear cell sarcoma of the tendons and aponeuroses
ORPHA:97339: Dural sinus malformation
ORPHA:97339: Cranial dural arteriovenous fistula
ORPHA:97339: Cranial dural arteriovenous malformations
ORPHA:97340: Hunter-McAlpine syndrome
ORPHA:97341: Persistent placoid maculopathy
ORPHA:97345: ABri amyloidosis
ORPHA:97345: Familial dementia, British type
ORPHA:97346: ADan amyloidosis
ORPHA:97346: Familial dementia, Danish type
ORPHA:97349: Postencephalitic parkinsonism
ORPHA:97352: Pellagra
ORPHA:97353: Dementia pugilistica
ORPHA:97353: Boxer's dementia
ORPHA:97353: Chronic traumatic encephalopathy
ORPHA:97353: Punch-drunk syndrome
ORPHA:97355: Caribbean parkinsonism
ORPHA:97355: Atypical parkinsonism in the Caribbean
ORPHA:97360: Robinow syndrome
ORPHA:97360: Acral dysostosis with facial and genital abnormalities
ORPHA:97360: Fetal face syndrome
ORPHA:97360: Mesomelic dwarfism-small genitalia syndrome
ORPHA:97360: Robinow dwarfism
ORPHA:97360: Robinow-Silverman-Smith syndrome
ORPHA:97361: Renal hypoplasia, unilateral
ORPHA:97362: Renal hypoplasia, bilateral
ORPHA:97363: Unilateral multicystic dysplastic kidney
ORPHA:97363: Unilateral MCDK
ORPHA:97363: Unilateral multicystic renal dysplasia
ORPHA:97364: Bilateral multicystic dysplastic kidney
ORPHA:97364: Bilateral MCDK
ORPHA:97364: Bilateral multicystic renal dysplasia
ORPHA:97366: Multiloculated renal cyst
ORPHA:97366: Multilocular cyst of the kidney
ORPHA:97366: Multilocular renal cyst
ORPHA:97367: Renal tubular dysgenesis due to twin-twin transfusion
ORPHA:97368: Drug-related renal tubular dysgenesis
ORPHA:97369: Renal tubular dysgenesis of genetic origin
ORPHA:974: Adams-Oliver syndrome
ORPHA:974: AOS
ORPHA:974: Aplasia cutis congenita with distal limb anomalies
ORPHA:974: Aplasia cutis congenita with terminal transverse limb defects
ORPHA:974: Congenital scalp defects with distal limb anomalies
ORPHA:974: Congenital scalp defects with distal limb reduction anomalies
ORPHA:97548: Right sided atrial isomerism
ORPHA:97548: Isomerism of right atrial appendage
ORPHA:97548: Ivemark syndrome
ORPHA:97548: RAI
ORPHA:97560: Primary membranous glomerulonephritis
ORPHA:97560: Idiopathic membranous glomerulonephritis
ORPHA:97560: Primary membranous nephropathy
ORPHA:97563: Pauci-immune glomerulonephritis with ANCA
ORPHA:97563: Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody
ORPHA:97564: Pauci-immune glomerulonephritis without ANCA
ORPHA:97564: Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis
ORPHA:97564: Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody
ORPHA:97566: Non-amyloid fibrillary glomerulopathy
ORPHA:97566: Congo red-negative amyloidosis-like glomerulopathy
ORPHA:97566: Non-amyloid fibrillary glomerulonephritis
ORPHA:97567: Immunotactoid glomerulopathy
ORPHA:97567: Immunotactoid glomerulonephritis
ORPHA:97593: Pseudohypoparathyroidism
ORPHA:97598: Congenital renal artery stenosis
ORPHA:97598: Congenital renovascular hypoplasia
ORPHA:976: Adenine phosphoribosyltransferase deficiency
ORPHA:976: 2,8-dihydroxyadenine urolithiasis
ORPHA:976: APRT deficiency
ORPHA:97678: Maternal uniparental disomy of chromosome 13 syndrome
ORPHA:97678: UPD(13)mat
ORPHA:97685: 17q11 microdeletion syndrome
ORPHA:97685: Del(17)(q11)
ORPHA:97685: Monosomy 17q11
ORPHA:97685: NF1 microdeletion syndrome
ORPHA:97685: Neurofibromatosis type 1 microdeletion syndrome
ORPHA:977: Adrenomyodystrophy
ORPHA:978: ADULT syndrome
ORPHA:978: Acro-dermato-ungual-lacrimal-tooth syndrome
ORPHA:978: Pigment anomaly-ectrodactyly-hypodontia syndrome
ORPHA:97929: Rare cardiac disease
ORPHA:97935: Rare gastroenterologic disease
ORPHA:97944: Gastroduodenal malformation
ORPHA:97945: Intestinal malformation
ORPHA:97955: Rare respiratory disease
ORPHA:97957: Respiratory or thoracic malformation
ORPHA:97962: Rare surgical thoracic disease
ORPHA:97965: Rare surgical cardiac disease
ORPHA:97966: Rare ophthalmic disorder
ORPHA:97978: Rare endocrine disease
ORPHA:97992: Rare hematologic disease
ORPHA:98: Autosomal recessive spastic ataxia of Charlevoix-Saguenay
ORPHA:98: ARSACS
ORPHA:98: Autosomal recessive spastic ataxia type 6
ORPHA:98: SPAX6
ORPHA:980: Absence of the pulmonary artery
ORPHA:980: Aplasia of pulmonary artery
ORPHA:980: UAPA
ORPHA:980: Unilateral Pulmonary Artery Absence
ORPHA:980: Unilateral pulmonary artery agenesis
ORPHA:98004: Rare immune disease
ORPHA:98006: Rare neurologic disease
ORPHA:98006: Rare nervous system disease
ORPHA:98010: Infectious disease of the nervous system
ORPHA:98022: Rare headache
ORPHA:98023: Rare systemic or rheumatologic disease
ORPHA:98026: Rare odontologic disease
ORPHA:98027: Rare disease with odontological manifestation
ORPHA:98028: Rare circulatory system disease
ORPHA:98033: Rare neurologic disease with psychiatric involvement
ORPHA:98036: Rare otorhinolaryngologic disease
ORPHA:98038: Cranial malformation
ORPHA:98039: Digestive tract malformation
ORPHA:98041: Visceral malformation of the liver, biliary tract, pancreas or spleen
ORPHA:98043: Diaphragmatic or abdominal wall malformation
ORPHA:98044: Central nervous system malformation
ORPHA:98045: Respiratory or mediastinal malformation
ORPHA:98047: Rare infertility
ORPHA:98048: Rare male infertility
ORPHA:98049: Rare female infertility
ORPHA:98050: Rare allergic disease
ORPHA:98050: Rare allergy
ORPHA:98052: Rare allergic respiratory disease
ORPHA:98052: Rare respiratory allergy
ORPHA:98053: Rare genetic disease
ORPHA:98054: Rare genetic cardiac disease
ORPHA:98056: Rare genetic renal disease
ORPHA:98057: Rare tumor
ORPHA:98057: Rare neoplasm
ORPHA:98058: Rare urinary tract tumor
ORPHA:98058: Rare urinary tract cancer
ORPHA:98058: Rare urinary tract neoplasm
ORPHA:98059: Rare digestive tumor
ORPHA:98059: Rare digestive cancer
ORPHA:98059: Rare digestive neoplasm
ORPHA:98060: Rare respiratory tumor
ORPHA:98060: Rare respiratory cancer
ORPHA:98060: Rare respiratory neoplasm
ORPHA:98061: Rare otorhinolaryngologic tumor
ORPHA:98061: Rare ORL cancer
ORPHA:98061: Rare ORL neoplasm
ORPHA:98061: Rare ORL tumor
ORPHA:98062: Rare nervous system tumor
ORPHA:98062: Rare nervous system neoplasm
ORPHA:98063: Rare gynecological tumor
ORPHA:98063: Rare gynaecological cancer
ORPHA:98063: Rare gynaecological neoplasm
ORPHA:98074: Gonadal dysgenesis of gynecological interest
ORPHA:98078: 46,XX difference of sex development induced by androgens excess
ORPHA:98078: 46,XX DSD induced by androgens excess
ORPHA:98078: 46,XX disorder of sex development induced by androgens excess
ORPHA:98085: 46,XY difference of sex development
ORPHA:98085: 46,XY DSD
ORPHA:98085: 46,XY disorder of sex development
ORPHA:98086: 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
ORPHA:98086: 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
ORPHA:98087: Syndrome with 46,XY difference of sex development
ORPHA:98087: Syndrome with 46,XY DSD
ORPHA:98087: Syndrome with 46,XY disorder of sex development
ORPHA:98095: Autosomal recessive congenital cerebellar ataxia
ORPHA:98096: Autosomal recessive metabolic cerebellar ataxia
ORPHA:98097: Autosomal recessive cerebellar ataxia due to a DNA repair defect
ORPHA:98098: Autosomal recessive degenerative and progressive cerebellar ataxia
ORPHA:98099: Autosomal recessive syndromic cerebellar ataxia
ORPHA:981: Internal carotid absence
ORPHA:98127: Autosomal anomaly syndrome
ORPHA:98130: Autosomal trisomy syndrome
ORPHA:98130: Autosomal duplication
ORPHA:98131: Total autosomal trisomy syndrome
ORPHA:98132: Partial autosomal duplication/triplication syndrome
ORPHA:98132: Partial autosomal trisomy/tetrasomy
ORPHA:98141: Total autosomal monosomy syndrome
ORPHA:98142: Partial autosomal deletion syndrome
ORPHA:98142: Partial autosomal monosomy
ORPHA:98152: Autosomal uniparental disomy syndrome
ORPHA:98153: Maternal uniparental disomy syndrome
ORPHA:98154: Paternal uniparental disomy syndrome
ORPHA:98155: Sex-chromosome anomaly syndrome
ORPHA:98155: Allosome anomaly
ORPHA:98156: Sex-chromosome number anomaly syndrome
ORPHA:98156: Allosome number anomaly
ORPHA:98157: Sex-chromosome structural anomaly syndrome
ORPHA:98157: Allosome structural anomaly
ORPHA:98158: Chromosome Y structural anomaly syndrome
ORPHA:98159: Chromosome X structural anomaly syndrome
ORPHA:98196: Malformation syndrome with hamartosis
ORPHA:98196: Dysmorphologic diseases with phakomatosis
ORPHA:982: Pulmonary valve agenesis
ORPHA:982: Absent pulmonary valve syndrome
ORPHA:982: Congenital absence of the pulmonary valve
ORPHA:982: PVA
ORPHA:98203: Combined dystonia
ORPHA:98203: Dystonia-plus syndrome
ORPHA:98249: Ehlers-Danlos syndrome
ORPHA:98249: EDS
ORPHA:98252: Infectious encephalitis
ORPHA:98255: Chronic encephalitis
ORPHA:98257: Neonatal epilepsy syndrome
ORPHA:98258: Infantile epilepsy syndrome
ORPHA:98259: Childhood-onset epilepsy syndrome
ORPHA:98260: Adolescent-onset epilepsy syndrome
ORPHA:98261: Progressive myoclonic epilepsy
ORPHA:98261: PME
ORPHA:98261: Progressive myoclonus epilepsy
ORPHA:98267: Genetic non-syndromic obesity
ORPHA:98267: Monogenic obesity due to a leptin-melanocortin pathway anomaly
ORPHA:98274: Myeloproliferative neoplasm
ORPHA:98274: MPD
ORPHA:98274: MPN
ORPHA:98274: Myeloproliferative disorder
ORPHA:98275: Myelodysplastic/myeloproliferative disease
ORPHA:98277: Acute myeloid leukemia with recurrent genetic anomaly
ORPHA:98277: AML with recurrent genetic anomaly
ORPHA:98282: Plasma cell tumor
ORPHA:98287: Histiocytic and dendritic cell tumor
ORPHA:98288: Macrophage or histiocytic tumor
ORPHA:98289: Dendritic cell tumor
ORPHA:98290: Immunodeficiency-associated lymphoproliferative disease
ORPHA:98291: Lymphoproliferative disease associated with primary immune disease
ORPHA:98292: Mastocytosis
ORPHA:98293: Hodgkin lymphoma
ORPHA:983: Testicular regression syndrome
ORPHA:983: ETRS
ORPHA:983: Embryonic testicular regression syndrome
ORPHA:983: TRS
ORPHA:983: Vanishing testes syndrome
ORPHA:983: Vanishing testis syndrome
ORPHA:983: XY gonadal agenesis syndrome
ORPHA:98300: Idiopathic interstitial pneumonia
ORPHA:98301: Laminopathy
ORPHA:98305: Genetic lipodystrophy
ORPHA:98306: Familial partial lipodystrophy
ORPHA:98306: FPLD
ORPHA:98307: Acquired lipodystrophy
ORPHA:98313: Male infertility due to gonadal dysgenesis
ORPHA:98313: Male infertility due to testicular dysgenesis
ORPHA:98343: Male infertility due to obstructive azoospermia
ORPHA:98343: Male infertility due to impaired sperm transport
ORPHA:98349: Autosomal dominant isolated diffuse palmoplantar keratoderma
ORPHA:98349: Autosomal dominant isolated diffuse palmoplantar hyperkeratosis
ORPHA:98352: Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
ORPHA:98352: Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature
ORPHA:98353: Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
ORPHA:98353: Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature
ORPHA:98356: Autosomal recessive isolated diffuse palmoplantar keratoderma
ORPHA:98356: Autosomal recessive isolated diffuse palmoplantar hyperkeratosis
ORPHA:98357: Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
ORPHA:98357: Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature
ORPHA:98360: Constitutional anemia due to iron metabolism disorder
ORPHA:98362: Constitutional sideroblastic anemia
ORPHA:98363: Rare hemolytic anemia
ORPHA:98364: Rare constitutional hemolytic anemia due to a red cell membrane anomaly
ORPHA:98365: Hereditary stomatocytosis
ORPHA:98365: Hereditary stomatocytic disease
ORPHA:98366: Constitutional hemolytic anemia due to acanthocytosis
ORPHA:98366: Constitutional hemolytic anemia due to acanthocytic disorder
ORPHA:98369: Rare constitutional hemolytic anemia due to an enzyme disorder
ORPHA:98370: Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
ORPHA:98372: Hemolytic anemia due to a disorder of glycolytic enzymes
ORPHA:98374: Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
ORPHA:98374: Hemolytic anemia due to an erythroenzymopathy
ORPHA:98375: Autoimmune hemolytic anemia
ORPHA:98375: AHA
ORPHA:98375: AIHA
ORPHA:98396: Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
ORPHA:984: Pulmonary agenesis
ORPHA:98408: Constitutional megaloblastic anemia due to folate metabolism disorder
ORPHA:98415: Vitamin B12- and folate-independent constitutional megaloblastic anemia
ORPHA:98421: Primary acquired red cell aplasia
ORPHA:98421: Primary autoimmune red cell aplasia
ORPHA:98427: Polycythemia
ORPHA:98428: Secondary polycythemia
ORPHA:98428: Secondary erythrocytosis
ORPHA:98429: Rare coagulation disorder
ORPHA:98434: Hereditary combined deficiency of vitamin K-dependent clotting factors
ORPHA:98434: Hereditary combined deficiency of factors II, VII, IX and X
ORPHA:98455: Alpha granule disease
ORPHA:98456: Dense granule disease
ORPHA:98456: Delta granule disease
ORPHA:98472: Skeletal muscle disease
ORPHA:98473: Muscular dystrophy
ORPHA:98482: Idiopathic inflammatory myopathy
ORPHA:98482: IMM
ORPHA:98482: Idiopathic inflammatory myositis
ORPHA:98486: Metabolic myopathy
ORPHA:98491: Neuromuscular junction disease
ORPHA:98494: Acquired neuromuscular junction disease
ORPHA:98495: Genetic neuromuscular junction disease
ORPHA:98496: Rare peripheral neuropathy
ORPHA:98497: Genetic peripheral neuropathy
ORPHA:98503: Motor neuron disease
ORPHA:98503: Anterior horn cell disease
ORPHA:98505: Genetic motor neuron disease
ORPHA:98505: Genetic anterior horn cell disease
ORPHA:98506: Acquired motor neuron disease
ORPHA:98506: Acquired anterior horn cell disease
ORPHA:98514: Malformation of the cerebellar vermis
ORPHA:98516: Malformation of the cerebellar hemispheres
ORPHA:98518: Cranial nerve and nuclear aplasia
ORPHA:98519: Posterior fossa malformation