TaoMedAI/RareMedData huggingface dataset:
ORPHA:213512: Malignant mixed Müllerian tumor of the ovary
ORPHA:213512: MMMT of the ovary
ORPHA:213512: Ovarian carcinosarcoma
ORPHA:213512: Ovarian malignant mixed Müllerian tumor
ORPHA:213512: Ovarian malignant mixed epithelial mesenchymal tumor
ORPHA:213528: Rare adenocarcinoma of the breast
ORPHA:213531: Metaplastic carcinoma of the breast
ORPHA:213557: Salivary gland type cancer of the breast
ORPHA:213557: Salivary gland type carcinoma of the breast
ORPHA:213564: Rare uterine cancer
ORPHA:213564: Rare cancer of uterus
ORPHA:213564: Rare malignant tumor of uterus
ORPHA:213564: Rare uterine malignant tumor
ORPHA:213569: Rare cancer of corpus uteri
ORPHA:213569: Rare malignant tumor of corpus uteri
ORPHA:213589: Malignant mixed epithelial and mesenchymal tumor of corpus uteri
ORPHA:213589: Mixed epithelial and mesenchymal cancer of corpus uteri
ORPHA:2136: Hennekam syndrome
ORPHA:2136: Lymphedema-lymphangiectasia-intellectual disability syndrome
ORPHA:213600: Adenosarcoma of the corpus uteri
ORPHA:213605: Carcinofibroma of the corpus uteri
ORPHA:213610: Carcinosarcoma of the corpus uteri
ORPHA:213610: Malignant mixed Müllerian tumor of the corpus uteri
ORPHA:213610: Mixed Müllerian cancer of corpus uteri
ORPHA:213610: Uterine carcinosarcoma
ORPHA:213615: Rhabdomyosarcoma of the corpus uteri
ORPHA:213620: Sarcoma of the corpus uteri
ORPHA:213625: Leiomyosarcoma of the corpus uteri
ORPHA:213630: Primitive neuroectodermal tumor of the corpus uteri
ORPHA:213630: Malignant peripheral neuroectodermal tumor of the corpus uteri
ORPHA:213630: Peripheral neuroectodermal cancer of the corpus uteri
ORPHA:2137: Autoimmune hepatitis
ORPHA:2137: AIH
ORPHA:213711: Endometrial stromal sarcoma
ORPHA:213711: Stromal sarcoma of the corpus uteri
ORPHA:213716: Squamous cell carcinoma of the corpus uteri
ORPHA:213716: Endometrial squamous cell carcinoma
ORPHA:213721: Undifferentiated carcinoma of the corpus uteri
ORPHA:213721: Endometrial undifferentiated carcinoma
ORPHA:213726: Serous carcinoma of the corpus uteri
ORPHA:213726: Endometrial serous carcinoma
ORPHA:213731: High-grade neuroendocrine carcinoma of the corpus uteri
ORPHA:213731: High-grade neuroendocrine carcinoma of the uterine corpus
ORPHA:213731: Poorly differentiated neuroendocrine carcinoma of the corpus uteri
ORPHA:213731: Poorly differentiated neuroendocrine carcinoma of the endometrium
ORPHA:213736: Low-grade neuroendocrine tumor of the corpus uteri
ORPHA:213736: Low-grade neuroendocrine tumor of the uterine corpus
ORPHA:213736: Well-differentiated neuroendocrine neoplasm of the endometrium
ORPHA:213736: Well-differentiated neuroendocrine tumor of the corpus uteri
ORPHA:213736: Well-differentiated neuroendocrine tumor of the endometrium
ORPHA:213746: Transitional cell carcinoma of the corpus uteri
ORPHA:213746: Endometrial transitional cell carcinoma
ORPHA:213751: Malignant germ cell tumor of the corpus uteri
ORPHA:213751: Germ cell cancer of the corpus uteri
ORPHA:213761: Rare cancer of cervix uteri
ORPHA:213761: Rare cervical cancer
ORPHA:213761: Rare cervical malignant tumor
ORPHA:213761: Rare malignant tumor of cervix uteri
ORPHA:213767: Squamous cell carcinoma of the cervix uteri
ORPHA:213767: Cervical squamous cell carcinoma
ORPHA:213772: Adenocarcinoma of the cervix uteri
ORPHA:213772: Cervical adenocarcinoma
ORPHA:213777: High-grade neuroendocrine carcinoma of the cervix uteri
ORPHA:213777: High-grade neuroendocrine carcinoma of the uterine cervix
ORPHA:213777: Poorly differentiated neuroendocrine carcinoma of the cervix uteri
ORPHA:213777: Poorly differentiated neuroendocrine cervical carcinoma
ORPHA:213782: Malignant mixed epithelial and mesenchymal tumor of cervix uteri
ORPHA:213782: Cervical malignant mixed epithelial and mesenchymal tumor
ORPHA:213782: Mixed epithelial and mesenchymal cancer of cervix uteri
ORPHA:213787: Carcinosarcoma of the cervix uteri
ORPHA:213787: Cervical carcinosarcoma
ORPHA:213787: Cervical malignant Müllerian mixed tumor
ORPHA:213787: Malignant Müllerian mixed tumor of the cervix uteri
ORPHA:213792: Adenosarcoma of the cervix uteri
ORPHA:213792: Cervical adenosarcoma
ORPHA:213797: Sarcoma of cervix uteri
ORPHA:213797: Cervical malignant mesenchymal tumor
ORPHA:213797: Cervical sarcoma
ORPHA:213797: Malignant mesenchymal tumor of cervix uteri
ORPHA:2138: 46,XX ovotesticular difference of sex development
ORPHA:2138: 46,XX ovotesticular DSD
ORPHA:2138: 46,XX ovotesticular disorder of sex development
ORPHA:213802: Rhabdomyosarcoma of the cervix uteri
ORPHA:213802: Cervical rhabdomyosarcoma
ORPHA:213807: Leiomyosarcoma of the cervix uteri
ORPHA:213807: Cervical leiomyosarcoma
ORPHA:213812: Primitive neuroectodermal tumor of the cervix uteri
ORPHA:213812: Cervical malignant peripheral neuroectodermal tumor
ORPHA:213812: Cervical peripheral neuroectodermal cancer
ORPHA:213812: Malignant peripheral neuroectodermal tumor of the cervix uteri
ORPHA:213812: Peripheral neuroectodermal cancer of cervix uteri
ORPHA:213823: Adenoid cystic carcinoma of the cervix uteri
ORPHA:213823: Cervical adenoid cystic carcinoma
ORPHA:213828: Adenoid basal carcinoma of the cervix uteri
ORPHA:213828: Cervical adenoid basal carcinoma
ORPHA:213833: Glassy cell carcinoma of the cervix uteri
ORPHA:213837: Malignant germ cell tumor of the cervix uteri
ORPHA:213837: Cervical germ cell cancer
ORPHA:213837: Cervical malignant germ cell tumor
ORPHA:213837: Germ cell cancer of the cervix uteri
ORPHA:2139: Hernández-Aguirre Negrete syndrome
ORPHA:2139: Intellectual disability-epilepsy-bulbous nose syndrome
ORPHA:214: Cystinuria
ORPHA:214: Cystinuria-lysinuria syndrome
ORPHA:2140: Congenital diaphragmatic hernia
ORPHA:2140: CDH
ORPHA:2141: Diaphragmatic defect-limb deficiency-skull defect syndrome
ORPHA:2141: Froster-Huch syndrome
ORPHA:2143: Donnai-Barrow syndrome
ORPHA:2143: DBS/FOAR syndrome
ORPHA:2143: Diaphragmatic hernia-exomphalos-hypertelorism syndrome
ORPHA:2143: Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
ORPHA:2143: Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome
ORPHA:2143: FOAR syndrome
ORPHA:2143: Facio-oculo-acoustico-renal syndrome
ORPHA:2143: Holmes-Schepens syndrome
ORPHA:2143: Syndrome of ocular and facial anomalies, telecanthus and deafness
ORPHA:2143: Syndrome of ocular and facial anomalies, telecanthus and hearing loss
ORPHA:2145: Craniosynostosis, Herrmann-Opitz type
ORPHA:2148: Lissencephaly type 1 due to doublecortin gene mutation
ORPHA:2148: X-linked lissencephaly type 1
ORPHA:2149: Nodular neuronal heterotopia
ORPHA:215: Congenital stationary night blindness
ORPHA:215: Congenital essential nyctalopia
ORPHA:2150: Hirschsprung disease-type D brachydactyly syndrome
ORPHA:2151: Hirschsprung disease-ganglioneuroblastoma syndrome
ORPHA:2152: Mowat-Wilson syndrome
ORPHA:2152: Hirschsprung disease-intellectual disability syndrome
ORPHA:2153: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
ORPHA:2153: Al Gazali-Donnai-Muller syndrome
ORPHA:2155: Hirschsprung disease-deafness-polydactyly syndrome
ORPHA:2155: Hirschsprung disease-hearing loss-polydactyly syndrome
ORPHA:2155: Santos-Mateus-Leal syndrome
ORPHA:2157: Histidinemia
ORPHA:2157: HAL deficiency
ORPHA:2157: HIS deficiency
ORPHA:2157: Histidase deficiency
ORPHA:2157: Histidine ammonia-lyase deficiency
ORPHA:2157: Histidinuria
ORPHA:2157: Hyperhistidinemia
ORPHA:2158: Histidinuria-renal tubular defect syndrome
ORPHA:216: Neuronal ceroid lipofuscinosis
ORPHA:216: CLN disease
ORPHA:216: NCL
ORPHA:216: NCL disease
ORPHA:2162: Holoprosencephaly
ORPHA:2162: HPE
ORPHA:2163: Holoprosencephaly-craniosynostosis syndrome
ORPHA:2163: Camero-Lituania-Cohen syndrome
ORPHA:2163: Genoa syndrome
ORPHA:2165: Holoprosencephaly-caudal dysgenesis syndrome
ORPHA:2166: Holoprosencephaly-postaxial polydactyly syndrome
ORPHA:2166: Pseudo-trisomy 13 syndrome
ORPHA:216675: Transposition of the great arteries
ORPHA:216675: Complete transposition
ORPHA:216675: TGA
ORPHA:216675: TGV
ORPHA:216675: Transposition of the great vessels
ORPHA:216694: Congenitally corrected transposition of the great arteries
ORPHA:216694: Congenitally corrected transposition of the great vessels
ORPHA:216694: Discordant ventriculoarterial and atrioventricular connections
ORPHA:216694: Double discordance
ORPHA:216694: L-transposition of the great arteries
ORPHA:216694: Levo-transposition of the great arteries
ORPHA:216694: Ventricular inversion
ORPHA:216694: Ventriculoarterial and atrioventricular discordance
ORPHA:2167: Holzgreve syndrome
ORPHA:2167: Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome
ORPHA:2167: Holzgreve-Wagner-Rehder syndrome
ORPHA:216718: Isolated congenitally uncorrected transposition of the great arteries
ORPHA:216718: Isolated congenitally uncorrected transposition of the great vessels
ORPHA:216729: Congenitally uncorrected transposition of the great arteries with cardiac malformation
ORPHA:216729: Congenitally uncorrected transposition of the great vessels with cardiac malformation
ORPHA:216729: TGA with cardiac malformation
ORPHA:216796: Osteogenesis imperfecta type 1
ORPHA:216796: Adair-Dighton syndrome
ORPHA:216796: Mild osteogenesis imperfecta
ORPHA:216796: Non-deforming osteogenesis imperfecta
ORPHA:216796: OI type 1
ORPHA:216796: Van der Hoeve syndrome
ORPHA:216804: Osteogenesis imperfecta type 2
ORPHA:216804: Lethal osteogenesis imperfecta
ORPHA:216804: OI type 2
ORPHA:216812: Osteogenesis imperfecta type 3
ORPHA:216812: OI type 3
ORPHA:216812: Progressive deforming osteogenesis imperfecta
ORPHA:216812: Severe osteogenesis imperfecta
ORPHA:216820: Osteogenesis imperfecta type 4
ORPHA:216820: OI type 4
ORPHA:216828: Osteogenesis imperfecta type 5
ORPHA:216828: OI type 5
ORPHA:216866: Classic pantothenate kinase-associated neurodegeneration
ORPHA:216866: NBIA1, classic form
ORPHA:216866: Neurodegeneration with brain iron accumulation type 1, classic form
ORPHA:216866: PKAN, classic form
ORPHA:216873: Atypical pantothenate kinase-associated neurodegeneration
ORPHA:216873: NBIA1, atypical form
ORPHA:216873: Neurodegeneration with brain iron accumulation type 1, atypical form
ORPHA:216873: PKAN, atypical form
ORPHA:2169: Methylcobalamin deficiency type cblE
ORPHA:2169: Functional methionine synthase deficiency type cblE
ORPHA:216972: Niemann-Pick disease type C, severe perinatal form
ORPHA:216975: Niemann-Pick disease type C, severe early infantile neurologic onset
ORPHA:216978: Niemann-Pick disease type C, late infantile neurologic onset
ORPHA:216981: Niemann-Pick disease type C, juvenile neurologic onset
ORPHA:216981: Niemann-Pick disease type C, classic form
ORPHA:216986: Niemann-Pick disease type C, adult neurologic onset
ORPHA:217: Isolated Dandy-Walker malformation
ORPHA:2170: Methylcobalamin deficiency type cblG
ORPHA:2170: Functional methionine synthase deficiency type cblG
ORPHA:217008: Bockenheimer syndrome
ORPHA:217008: Genuine diffuse phlebectasia
ORPHA:217012: Spinocerebellar ataxia type 31
ORPHA:217012: SCA31
ORPHA:217017: Zechi-Ceide syndrome
ORPHA:217017: Occipital atretic cephalocele-unusual facies-large feet syndrome
ORPHA:217026: Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
ORPHA:217026: Hadziselimovic syndrome
ORPHA:217026: Microcephaly-faciocardioskeletal syndrome
ORPHA:217055: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
ORPHA:217055: RI-CMT type A
ORPHA:217059: Isolated nail clubbing
ORPHA:217059: Isolated congenital acropachy
ORPHA:217059: Isolated congenital digital clubbing
ORPHA:217064: 5-fluorouracil poisoning
ORPHA:217064: 5-fluorouracil intoxication
ORPHA:217067: Pouchitis
ORPHA:217071: Renal cell carcinoma
ORPHA:217071: RCC
ORPHA:217074: Rare carcinoma of pancreas
ORPHA:217074: Rare pancreatic carcinoma
ORPHA:217080: Pulmonary fungal infections in patients deemed at risk
ORPHA:217085: Mucopolysaccharidosis type 2, severe form
ORPHA:217085: Hunter syndrome type A
ORPHA:217085: Iduronate 2-sulfatase deficiency type A
ORPHA:217085: MPS2A
ORPHA:217085: MPSIIA
ORPHA:217085: Mucopolysaccharidosis type 2A
ORPHA:217085: Mucopolysaccharidosis type II, severe form
ORPHA:217085: Mucopolysaccharidosis type IIA
ORPHA:217093: Mucopolysaccharidosis type 2, attenuated form
ORPHA:217093: Hunter syndrome type B
ORPHA:217093: Iduronate 2-sulfatase deficiency type B
ORPHA:217093: MPS2B
ORPHA:217093: MPSIIB
ORPHA:217093: Mucopolysaccharidosis type 2B
ORPHA:217093: Mucopolysaccharidosis type II, attenuated form
ORPHA:217093: Mucopolysaccharidosis type IIB
ORPHA:2172: Microcephaly-glomerulonephritis-marfanoid habitus syndrome
ORPHA:217253: NMDA receptor encephalitis
ORPHA:217253: Limbic encephalitis with N-methyl-D-aspartate receptor antibodies
ORPHA:217253: Limbic encephalitis with NMDA receptor antibodies
ORPHA:217253: N-methyl-D-aspartate receptor encephalitis
ORPHA:217253: NMDARE
ORPHA:217253: anti-NMDA receptor encephalitis
ORPHA:217260: Progressive multifocal leukoencephalopathy
ORPHA:217260: PML
ORPHA:217260: Progressive multifocal leukoencephalitis
ORPHA:217266: BNAR syndrome
ORPHA:217266: Bifid nose with or without anorectal and renal anomalies
ORPHA:217330: REN-related autosomal dominant tubulointerstitial kidney disease
ORPHA:217330: ADTKD-REN
ORPHA:217330: FJHN type 2
ORPHA:217330: Familial juvenile hyperuricemic nephropathy type 2
ORPHA:217330: REN-associated FJHN
ORPHA:217330: REN-associated familial juvenile hyperuricemic nephropathy
ORPHA:217330: REN-associated kidney disease
ORPHA:217335: RIN2 syndrome
ORPHA:217335: MACS syndrome
ORPHA:217335: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
ORPHA:217335: RIN2 deficiency
ORPHA:217335: Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
ORPHA:217340: 17q21.31 microduplication syndrome
ORPHA:217340: Dup(17)(q21.31)
ORPHA:217340: Trisomy 17q21.31
ORPHA:217346: 19q13.11 microdeletion syndrome
ORPHA:217346: Del(19)(q13.11)
ORPHA:217346: Monosomy 19q13.11
ORPHA:217371: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
ORPHA:217371: Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
ORPHA:217377: Microduplication Xp11.22p11.23 syndrome
ORPHA:217377: Dup(X)(p11.22p11.23)
ORPHA:217377: Trisomy Xp11.22p11.23
ORPHA:217382: Neurodegenerative syndrome due to cerebral folate transport deficiency
ORPHA:217382: Cerebral folate deficiency
ORPHA:217382: Cerebral folate transport deficiency
ORPHA:217382: Folate receptor alpha deficiency
ORPHA:217385: 17p13.3 microduplication syndrome
ORPHA:217385: 17p13.3 duplication syndrome
ORPHA:217385: Dup(17)(p13.3)
ORPHA:217385: Trisomy 17p13.3
ORPHA:217390: Combined immunodeficiency due to DOCK8 deficiency
ORPHA:217390: CID due to DOCK8 deficiency
ORPHA:217390: Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
ORPHA:217390: DOCK8 immunodeficiency syndrome
ORPHA:217396: Progressive polyneuropathy with bilateral striatal necrosis
ORPHA:217399: Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
ORPHA:217399: Congenital absence of pain with hyperhidrosis
ORPHA:217399: Congenital analgesia with hyperhidrosis
ORPHA:217399: Congenital indifference to pain with hyperhidrosis
ORPHA:217399: Congenital insensitivity to pain with hyperhidrosis
ORPHA:217407: Hereditary hypotrichosis with recurrent skin vesicles
ORPHA:217454: Rare hereditary thrombophilia
ORPHA:217467: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
ORPHA:217467: Hereditary thrombophilia due to congenital HRG deficiency
ORPHA:217557: Pulmonary interstitial glycogenosis
ORPHA:217557: Infantile cellular interstitial pneumonitis
ORPHA:217557: PIG
ORPHA:217560: Neuroendocrine cell hyperplasia of infancy
ORPHA:217560: NCHI
ORPHA:217560: NEHI
ORPHA:217563: Neonatal acute respiratory distress syndrome
ORPHA:217563: Hyaline membrane disease
ORPHA:217563: Neonatal RDS
ORPHA:217563: Neonatal acute respiratory distress due to surfactant protein deficiency
ORPHA:217566: Chronic respiratory distress with surfactant metabolism deficiency
ORPHA:217569: Rare hypertrophic cardiomyopathy
ORPHA:217572: Glycogen storage disease with hypertrophic cardiomyopathy
ORPHA:217572: GSD with hypertrophic cardiomyopathy
ORPHA:217572: Glycogenosis with hypertrophic cardiomyopathy
ORPHA:217581: Lysosomal disease with hypertrophic cardiomyopathy
ORPHA:217587: Mitochondrial disease with hypertrophic cardiomyopathy
ORPHA:217591: Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
ORPHA:217595: Syndrome associated with hypertrophic cardiomyopathy
ORPHA:217598: Non-familial hypertrophic cardiomyopathy
ORPHA:2176: Infantile systemic hyalinosis
ORPHA:217604: Dilated cardiomyopathy
ORPHA:217607: Familial dilated cardiomyopathy
ORPHA:217610: Neuromuscular disease with dilated cardiomyopathy
ORPHA:217613: Mitochondrial disease with dilated cardiomyopathy
ORPHA:217616: Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
ORPHA:217619: Syndrome associated with dilated cardiomyopathy
ORPHA:217622: Sensorineural deafness with dilated cardiomyopathy
ORPHA:217622: Neurosensory deafness with dilated cardiomyopathy
ORPHA:217622: Neurosensory hearing loss with dilated cardiomyopathy
ORPHA:217622: Sensorineural hearing loss with dilated cardiomyopathy
ORPHA:217629: Non-familial dilated cardiomyopathy
ORPHA:217632: Restrictive cardiomyopathy
ORPHA:217635: Familial restrictive cardiomyopathy
ORPHA:217638: Lysosomal disease with restrictive cardiomyopathy
ORPHA:217656: Inherited isolated arrhythmogenic cardiomyopathy
ORPHA:217656: ACM
ORPHA:217656: Familial isolated arrhythmogenic right ventricular dysplasia
ORPHA:217678: Unclassified cardiomyopathy
ORPHA:2177: Hydranencephaly
ORPHA:217720: Non-familial restrictive cardiomyopathy
ORPHA:218: Darier disease
ORPHA:218: Darier-White disease
ORPHA:218: Keratosis follicularis
ORPHA:2180: Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
ORPHA:2180: Ferlini-Ragno-Calzolari syndrome
ORPHA:2180: Waaler-Aarskog syndrome
ORPHA:2181: Hydrocephaly-tall stature-joint laxity syndrome
ORPHA:2181: Daish-Hardman-Lamont syndrome
ORPHA:2182: Hydrocephalus with stenosis of the aqueduct of Sylvius
ORPHA:2182: Bickers-Adams syndrome
ORPHA:2182: HSAS
ORPHA:2182: X-linked HSAS
ORPHA:2182: X-linked acqueductal stenosis
ORPHA:2182: X-linked hydrocephalus
ORPHA:2182: X-linked hydrocephalus with stenosis of aqueduct of Sylvius
ORPHA:2183: Hydrocephalus-obesity-hypogonadism syndrome
ORPHA:2183: Sengers-Hamel-Otten syndrome
ORPHA:2184: Hydrocephaly-low insertion umbilicus syndrome
ORPHA:2184: Palmer-Pagon syndrome
ORPHA:218436: Rare cardiac rhythm disease
ORPHA:218439: Non-genetic cardiac rhythm disease
ORPHA:2185: Congenital hydrocephalus
ORPHA:2186: Hydrocephalus-blue sclerae-nephropathy syndrome
ORPHA:2186: Daentl-Townsend-Siegel syndrome
ORPHA:2189: Hydrolethalus
ORPHA:219: Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
ORPHA:219: Autosomal recessive limb-girdle muscular dystrophy type 2F
ORPHA:219: Delta-sarcoglycan-related LGMD R6
ORPHA:219: Delta-sarcoglycanopathy
ORPHA:219: LGMD due to delta-sarcoglycan deficiency
ORPHA:219: LGMD type 2F
ORPHA:219: LGMD2F
ORPHA:219: Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
ORPHA:219: Limb-girdle muscular dystrophy type 2F
ORPHA:2195: Dicarboxylic aminoaciduria
ORPHA:2195: Glutamate-aspartate transport defect
ORPHA:2196: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
ORPHA:2196: FHHNC with severe ocular involvement
ORPHA:2196: Hypercalciuria-bilateral macular coloboma syndrome
ORPHA:2196: Meier-Blumberg-Imahorn syndrome
ORPHA:2197: Idiopathic hypercalciuria
ORPHA:2198: Palmoplantar keratoderma-esophageal carcinoma syndrome
ORPHA:2198: Bennion-Patterson syndrome
ORPHA:2198: Howell-Evans syndrome
ORPHA:2198: Keratosis palmoplantaris-esophageal carcinoma syndrome
ORPHA:2198: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
ORPHA:2198: Tylosis-oesophageal carcinoma syndrome
ORPHA:2199: Epidermolytic palmoplantar keratoderma
ORPHA:2199: Diffuse erythrodermic palmoplantar keratoderma, Voerner type
ORPHA:2199: Diffuse erythrodermic palmoplantar keratoderma, Vörner type
ORPHA:2199: EPPK
ORPHA:2199: Epidermolytic palmoplantar keratoderma of Voerner
ORPHA:2199: Epidermolytic palmoplantar keratoderma of Vörner
ORPHA:22: Succinic semialdehyde dehydrogenase deficiency
ORPHA:22: 4-hydroxybutyric aciduria
ORPHA:22: Gamma-hydroxybutyric aciduria
ORPHA:22: SSADH deficiency
ORPHA:220: Denys-Drash syndrome
ORPHA:220: Drash syndrome
ORPHA:220: Wilms tumor-DSD syndrome
ORPHA:220: Wilms tumor-disorder of sex development syndrome
ORPHA:2200: Focal palmoplantar and gingival keratoderma
ORPHA:2200: Focal palmoplantar and gingival hyperkeratosis
ORPHA:2201: Palmoplantar keratoderma-spastic paralysis syndrome
ORPHA:2201: Palmoplantar hyperkeratosis-spastic paralysis syndrome
ORPHA:2201: Powell-Venencie-Gordon syndrome
ORPHA:2202: Palmoplantar keratoderma-deafness syndrome
ORPHA:2202: PPK-deafness syndrome
ORPHA:2202: Palmoplantar hyperkeratosis-deafness syndrome
ORPHA:2202: Palmoplantar hyperkeratosis-hearing loss syndrome
ORPHA:2202: Palmoplantar keratoderma-hearing loss syndrome
ORPHA:220295: Xeroderma pigmentosum-Cockayne syndrome complex
ORPHA:220295: XP/CS complex
ORPHA:2203: Hyperlysinemia
ORPHA:2203: Hyperlysinemia type I
ORPHA:2203: Lysine alpha-ketoglutarate reductase deficiency
ORPHA:220386: Semilobar holoprosencephaly
ORPHA:220393: Diffuse cutaneous systemic sclerosis
ORPHA:220393: Diffuse cutaneous systemic scleroderma
ORPHA:220393: Progressive cutaneous systemic scleroderma
ORPHA:220393: Progressive cutaneous systemic sclerosis
ORPHA:2204: Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
ORPHA:2204: Kozlowski-Tsuruta syndrome
ORPHA:220402: Limited cutaneous systemic sclerosis
ORPHA:220402: Limited cutaneous systemic scleroderma
ORPHA:220407: Limited systemic sclerosis
ORPHA:220407: Systemic sclerosis sine scleroderma
ORPHA:220436: Quebec platelet disorder
ORPHA:220436: Factor V Quebec
ORPHA:220443: Bleeding diathesis due to thromboxane synthesis deficiency
ORPHA:220448: Macrothrombocytopenia with mitral valve insufficiency
ORPHA:220452: Isolated hereditary giant platelet disorder
ORPHA:220452: Isolated hereditary macrothrombocytopenia
ORPHA:220452: Isolated inherited giant platelet disorder
ORPHA:220452: Isolated inherited macrothrombocytopenia
ORPHA:220460: Attenuated familial adenomatous polyposis
ORPHA:220460: AFAP
ORPHA:220460: Attenuated FAP
ORPHA:220460: Attenuated familial polyposis coli
ORPHA:220465: Laron syndrome with immunodeficiency
ORPHA:220465: Laron-like syndrome
ORPHA:220465: Short stature due to STAT5b deficiency
ORPHA:220489: Rare hereditary hemochromatosis
ORPHA:220489: Iron overload disease
ORPHA:220493: Joubert syndrome with ocular defect
ORPHA:220493: JS-O
ORPHA:220493: Joubert syndrome with retinopathy
ORPHA:220497: Joubert syndrome with renal defect
ORPHA:220497: JS-R
ORPHA:2206: Ankylosing vertebral hyperostosis with tylosis
ORPHA:2207: Familial primary hyperparathyroidism
ORPHA:2209: Maternal phenylketonuria
ORPHA:2209: Hyperphenylalaninemic embryopathy
ORPHA:2209: Maternal PKU
ORPHA:2209: Maternal hyperphenylalaninemia
ORPHA:2209: Phenylketonuric embryopathy
ORPHA:221: Dermatomyositis
ORPHA:221: Adult dermatomyositis
ORPHA:221008: Rothmund-Thomson syndrome type 1
ORPHA:221008: Poikiloderma of Rothmund-Thomson type 1
ORPHA:221008: RTS1
ORPHA:221016: Rothmund-Thomson syndrome type 2
ORPHA:221016: Poikiloderma of Rothmund-Thomson type 2
ORPHA:221016: RTS2
ORPHA:221039: Hereditary sclerosing poikiloderma, Weary type
ORPHA:221043: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
ORPHA:221043: POIKTMP syndrome
ORPHA:221046: Poikiloderma with neutropenia
ORPHA:221046: Poikiloderma with neutropenia, Clericuzio type
ORPHA:221054: Acrocephalopolydactyly
ORPHA:221054: Acrocephalopolydactylous dysplasia
ORPHA:221054: Elejalde acrocephalopolydactyly
ORPHA:221061: Familial cerebral cavernous malformation
ORPHA:221061: Familial brain cavernous angioma
ORPHA:221061: Familial cerebral cavernoma
ORPHA:221061: Hereditary brain cavernous angioma
ORPHA:221061: Hereditary cerebral cavernoma
ORPHA:221061: Hereditary cerebral cavernous malformation
ORPHA:221074: Marchiafava-Bignami disease
ORPHA:221074: MBD