TaoMedAI/RareMedData huggingface dataset:
ORPHA:169826: Congenital vitamin K-dependent coagulation factors deficiency
ORPHA:1699: Trisomy 12p syndrome
ORPHA:1699: Duplication 12p
ORPHA:17: Fatal infantile lactic acidosis with methylmalonic aciduria
ORPHA:170: Woolly hair
ORPHA:170: Familial woolly hair syndrome
ORPHA:170: Familial wooly hair syndrome
ORPHA:170: Hereditary woolly hair syndrome
ORPHA:170: Hereditary wooly hair syndrome
ORPHA:170: Wooly hair
ORPHA:1702: Non-distal duplication 13q syndrome
ORPHA:1702: Non-distal trisomy 13q
ORPHA:1702: Non-telomeric trisomy 13q
ORPHA:1703: Mosaic trisomy 14 syndrome
ORPHA:1703: Mosaic trisomy chromosome 14
ORPHA:1703: Trisomy 14 mosaicism
ORPHA:1705: Distal duplication 14q syndrome
ORPHA:1705: Telomeric duplication 14q
ORPHA:1705: Trisomy 14qter
ORPHA:1706: Mosaic trisomy 15 syndrome
ORPHA:1706: Mosaic trisomy chromosome 15
ORPHA:1706: Trisomy 15 mosaicism
ORPHA:1707: Distal duplication 15q syndrome
ORPHA:1707: Distal trisomy 15q
ORPHA:1707: Telomeric duplication 15q
ORPHA:1707: Trisomy 15qter
ORPHA:1708: Mosaic trisomy 16 syndrome
ORPHA:1708: Mosaic trisomy chromosome 16
ORPHA:1708: Trisomy 16 mosaicism
ORPHA:171: Primary sclerosing cholangitis
ORPHA:171: PSC
ORPHA:1711: Mosaic trisomy 17 syndrome
ORPHA:1711: Mosaic trisomy chromosome 17
ORPHA:1711: Trisomy 17 mosaicism
ORPHA:171220: Rectal duplication
ORPHA:1713: 17p11.2 microduplication syndrome
ORPHA:1713: Potocki-Lupski syndrome
ORPHA:1713: Trisomy 17p11.2
ORPHA:171430: Severe congenital nemaline myopathy
ORPHA:171433: Intermediate nemaline myopathy
ORPHA:171436: Typical nemaline myopathy
ORPHA:171439: Childhood-onset nemaline myopathy
ORPHA:171439: Mild nemaline myopathy
ORPHA:171442: Adult-onset nemaline myopathy
ORPHA:171445: Muscle filaminopathy
ORPHA:171445: FLNC-associated myofibrillar myopathy
ORPHA:171445: Filamin C-related filaminopathy
ORPHA:171445: MFM5
ORPHA:1715: Trisomy 18p syndrome
ORPHA:1715: Duplication 18p
ORPHA:1715: Duplication of the short arm of chromosome 18
ORPHA:1715: Trisomy of the short arm of chromosome 18
ORPHA:1716: Distal duplication 18q syndrome
ORPHA:1716: Distal trisomy 18q
ORPHA:1716: Telomeric duplication 18q
ORPHA:1716: Trisomy 18qter
ORPHA:171607: X-linked spastic paraplegia type 34
ORPHA:171607: SPG34
ORPHA:171612: Autosomal dominant spastic paraplegia type 37
ORPHA:171612: SPG37
ORPHA:171617: Autosomal dominant spastic paraplegia type 38
ORPHA:171617: SPG38
ORPHA:171622: Autosomal recessive spastic paraplegia type 32
ORPHA:171622: SPG32
ORPHA:171629: Autosomal recessive spastic paraplegia type 35
ORPHA:171629: SPG35
ORPHA:171673: Limbal stem cell deficiency
ORPHA:171680: Lissencephaly due to TUBA1A mutation
ORPHA:171684: Idiopathic bilateral vestibulopathy
ORPHA:171690: Metabolic myopathy due to lactate transporter defect
ORPHA:171690: Erythrocyte lactate transporter defect
ORPHA:171695: Parkinsonian-pyramidal syndrome
ORPHA:171695: Pallidopyramidal syndrome
ORPHA:1717: Distal duplication 19q syndrome
ORPHA:1717: Distal trisomy 19q
ORPHA:1717: Telomeric duplication 19q
ORPHA:1717: Trisomy 19qter
ORPHA:171700: Diffuse panbronchiolitis
ORPHA:171703: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
ORPHA:171706: Short stature-delayed bone age due to thyroid hormone metabolism deficiency
ORPHA:171709: Male infertility due to globozoospermia
ORPHA:171709: Male infertility due to round-headed spermatozoa
ORPHA:171709: Round-headed sperm syndrome
ORPHA:171719: Cutis laxa-Marfanoid syndrome
ORPHA:171723: White sponge nevus
ORPHA:171723: Hereditary mucosal leukokeratosis
ORPHA:171723: White sponge nevus of Cannon
ORPHA:171829: 6q16 microdeletion syndrome
ORPHA:171829: Del(6)(q16)
ORPHA:171829: Monosomy 6q16
ORPHA:171829: Prader-Willi-like syndrome due to microdeletion 6q16
ORPHA:171839: Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
ORPHA:171839: Berant syndrome
ORPHA:171839: Capra-DeMarco syndrome
ORPHA:171839: Familial scaphocephaly-radioulnar synostosis syndrome
ORPHA:171844: Blindness-scoliosis-arachnodactyly syndrome
ORPHA:171848: Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
ORPHA:171848: PHARC syndrome
ORPHA:171848: Peripheral neuropathy, Fiskerstrand type
ORPHA:171848: Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome
ORPHA:171851: MEDNIK syndrome
ORPHA:171851: Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
ORPHA:171851: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
ORPHA:171863: Autosomal dominant spastic paraplegia type 42
ORPHA:171863: SPG42
ORPHA:171866: Spondyloepimetaphyseal dysplasia, aggrecan type
ORPHA:171866: SEMD, aggrecan type
ORPHA:171871: Renal pseudohypoaldosteronism type 1
ORPHA:171871: Autosomal dominant PHA1
ORPHA:171871: Autosomal dominant pseudohypoaldosteronism type 1
ORPHA:171871: Renal PHA1
ORPHA:171876: Generalized pseudohypoaldosteronism type 1
ORPHA:171876: Autosomal recessive PHA1
ORPHA:171876: Autosomal recessive pseudohypoaldosteronism type 1
ORPHA:171876: Generalized PHA1
ORPHA:171881: Cap myopathy
ORPHA:171881: Cap disease
ORPHA:171886: Cylindrical spirals myopathy
ORPHA:171889: Myopathy with hexagonally cross-linked tubular arrays
ORPHA:171895: Myeloid hemopathy
ORPHA:171898: Lymphoid hemopathy
ORPHA:171901: Primary cutaneous T-cell lymphoma
ORPHA:171915: B-cell non-Hodgkin lymphoma
ORPHA:171915: B-cell NHL
ORPHA:171918: T-cell non-Hodgkin lymphoma
ORPHA:171918: T-cell NHL
ORPHA:171929: Trisomy 10p syndrome
ORPHA:172: Progressive familial intrahepatic cholestasis
ORPHA:172: PFIC
ORPHA:1723: Mosaic trisomy 2 syndrome
ORPHA:1723: Mosaic trisomy chromosome 2
ORPHA:1723: Trisomy 2 mosaicism
ORPHA:1724: Mosaic trisomy 20 syndrome
ORPHA:1724: Mosaic trisomy chromosome 20
ORPHA:1724: Trisomy 20 mosaicism
ORPHA:1727: 22q11.2 duplication syndrome
ORPHA:1727: 22q11.2 microduplication syndrome
ORPHA:1727: Dup(22)(q11)
ORPHA:1727: Duplication 22q11.2
ORPHA:1727: Trisomy 22q11.2
ORPHA:172976: Congenital myopathy with cores
ORPHA:173: Cholera
ORPHA:1738: Trisomy 4p syndrome
ORPHA:1738: Duplication 4p
ORPHA:1738: Duplication of the short arm of chromosome 4
ORPHA:1738: Trisomy of the short arm of chromosome 4
ORPHA:174: Metaphyseal chondrodysplasia, Schmid type
ORPHA:1742: Trisomy 5p syndrome
ORPHA:1742: Duplication 5p
ORPHA:1742: Duplication of the short arm of chromosome 5
ORPHA:1742: Trisomy of the short arm of chromosome 5
ORPHA:1745: Distal duplication 6p syndrome
ORPHA:1745: Distal trisomy 6p
ORPHA:1745: Telomeric duplication 6p
ORPHA:1745: Trisomy 6pter
ORPHA:174590: Congenital hypogonadotropic hypogonadism
ORPHA:1747: Mosaic trisomy 7 syndrome
ORPHA:1747: Mosaic trisomy chromosome 7
ORPHA:1747: Trisomy 7 mosaicism
ORPHA:175: Cartilage-hair hypoplasia
ORPHA:175: Autosomal recessive metaphyseal chondrodysplasia
ORPHA:175: Metaphyseal chondrodysplasia, McKusick type
ORPHA:1752: Trisomy 8q syndrome
ORPHA:1752: Duplication 8q
ORPHA:1756: Caudal duplication
ORPHA:1756: Dipygus
ORPHA:1756: Split notochord syndrome
ORPHA:1757: Fibular dimelia-diplopodia syndrome
ORPHA:1757: Leg duplication-mirror foot syndrome
ORPHA:1759: Thoraco-abdominal enteric duplication
ORPHA:176: Non-rhizomelic chondrodysplasia punctata
ORPHA:1762: Proximal Xq28 duplication syndrome
ORPHA:1762: MECP2 duplication syndrome
ORPHA:1762: X-linked intellectual disability syndrome, Lubs type
ORPHA:1764: Familial dysautonomia
ORPHA:1764: HSAN3
ORPHA:1764: Hereditary sensory and autonomic neuropathy type 3
ORPHA:1764: Hereditary sensory and autonomic neuropathy type III
ORPHA:1764: Riley-Day syndrome
ORPHA:1766: Dysequilibrium syndrome
ORPHA:1766: CAMRQ syndrome
ORPHA:1766: Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
ORPHA:1766: Non-progressive cerebellar ataxia-intellectual disability syndrome
ORPHA:1766: UTS
ORPHA:1766: Uner Tan syndrome
ORPHA:1768: Familial caudal dysgenesis
ORPHA:1768: Rudd-Klimek syndrome
ORPHA:177: Rhizomelic chondrodysplasia punctata
ORPHA:177: RCDP
ORPHA:1770: XY type gonadal dysgenesis-associated anomalies syndrome
ORPHA:177101: Rare adult hypothyroidism
ORPHA:177107: Syndromic hypothyroidism
ORPHA:1772: 45,X/46,XY mixed gonadal dysgenesis
ORPHA:1772: 45,X/46,XY MGD
ORPHA:1772: 45,X0/46,XY MGD
ORPHA:1772: 45,X0/46,XY mixed gonadal dysgenesis
ORPHA:1775: Dyskeratosis congenita
ORPHA:1775: DC
ORPHA:1775: DKC
ORPHA:1775: Zinsser-Engman-Cole syndrome
ORPHA:1777: Temtamy syndrome
ORPHA:1777: Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
ORPHA:1777: Temtamy-Shalash syndrome
ORPHA:1778: Facial dysmorphism-shawl scrotum-joint laxity syndrome
ORPHA:1778: Seaver-Cassidy syndrome
ORPHA:1779: Dysmorphism-cleft palate-loose skin syndrome
ORPHA:177901: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
ORPHA:177904: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
ORPHA:177907: Prader-Willi syndrome due to translocation
ORPHA:177910: Prader-Willi syndrome due to imprinting mutation
ORPHA:177926: Bleeding disorder in hemophilia A carriers
ORPHA:177929: Bleeding disorder in hemophilia B carriers
ORPHA:178: Chordoma
ORPHA:178: Notochordal sarcoma
ORPHA:1780: Thakker-Donnai syndrome
ORPHA:1780: Dysmorphism-multiple structural anomalies syndrome
ORPHA:178025: Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations
ORPHA:178029: Arginine vasopressin deficiency
ORPHA:178029: CDI
ORPHA:178029: Neurogenic diabetes insipidus
ORPHA:178040: Rare peripheral precocious puberty
ORPHA:178045: Transient congenital hypothyroidism
ORPHA:178145: Moderate multiminicore disease with hand involvement
ORPHA:178148: Antenatal multiminicore disease with arthrogryposis multiplex congenita
ORPHA:1782: Dysosteosclerosis
ORPHA:178303: 8q22.1 microdeletion syndrome
ORPHA:178303: Monosomy 8q22.1
ORPHA:178303: Nablus mask-like facial syndrome
ORPHA:178307: Reticulate acropigmentation of Kitamura
ORPHA:178307: RAK
ORPHA:178311: Isolated sternocostoclavicular hyperostosis
ORPHA:178311: Isolated SCCH
ORPHA:178315: Undifferentiated embryonal sarcoma of the liver
ORPHA:178315: Embryonal sarcoma of the liver
ORPHA:178315: UES
ORPHA:178315: Undifferentiated sarcoma of the liver
ORPHA:178320: Acute lung injury
ORPHA:178333: Åland Islands eye disease
ORPHA:178333: AIED
ORPHA:178333: Forsius-Eriksson syndrome
ORPHA:178333: Forsius-Eriksson type ocular albinism
ORPHA:178338: UV-sensitive syndrome
ORPHA:178342: Inflammatory myofibroblastic tumor
ORPHA:178345: Aromatase excess syndrome
ORPHA:178345: AEXS
ORPHA:178345: Familial hyperestrogenism
ORPHA:178345: Hereditary prepubertal gynecomastia
ORPHA:178355: Smith-McCort dysplasia
ORPHA:178364: Syndromic microphthalmia type 5
ORPHA:178364: MCOPS5
ORPHA:178364: Syndromic microphthalmia/anophthalmia due to OTX2 mutation
ORPHA:178377: Osteosclerosis-developmental delay-craniosynostosis syndrome
ORPHA:178382: Congenital vertical talus
ORPHA:178382: Congenital convex foot
ORPHA:178382: Congenital convex pes valgus
ORPHA:178382: Congenital rocker-bottom foot
ORPHA:178389: Osteopetrosis-hypogammaglobulinemia syndrome
ORPHA:178389: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
ORPHA:178389: Autosomal recessive osteopetrosis type 7
ORPHA:178396: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
ORPHA:1784: Acrofrontofacionasal dysostosis
ORPHA:1784: Richieri-Costa-Colletto syndrome
ORPHA:178400: Distal myopathy with anterior tibial onset
ORPHA:178400: Distal anterior compartment myopathy
ORPHA:178461: X-linked myopathy with postural muscle atrophy
ORPHA:178461: XMPMA
ORPHA:178464: Hereditary myopathy with early respiratory failure
ORPHA:178464: Edström Myopathy
ORPHA:178464: HIBM-ERF
ORPHA:178464: HMERF
ORPHA:178464: Hereditary inclusion body myopathy with early respiratory failure
ORPHA:178464: MFM-titinopathy
ORPHA:178464: Myofibrillar myopathy with early respiratory failure
ORPHA:178464: Myofibrillar myopathy-titinopathy
ORPHA:178469: Autosomal dominant non-syndromic intellectual disability
ORPHA:178475: Wound botulism
ORPHA:178475: Cutaneous infectious botulism
ORPHA:178475: Cutaneous toxin-mediated botulism
ORPHA:178475: Inoculation botulism
ORPHA:178475: Skin infectious botulism
ORPHA:178475: Skin toxin-mediated botulism
ORPHA:178478: Infant botulism
ORPHA:178478: Infant intestinal botulism
ORPHA:178478: Infant intestinal toxemia botulism
ORPHA:178478: Infant intestinal toxin-mediated botulism
ORPHA:178478: Infantile botulism
ORPHA:178481: Intestinal botulism
ORPHA:178481: Intestinal colonization botulism
ORPHA:178481: Intestinal toxemia botulism
ORPHA:178481: Intestinal toxin-mediated botulism
ORPHA:178487: Adult intestinal botulism
ORPHA:178487: Adult intestinal colonization botulism
ORPHA:178487: Adult intestinal toxemia botulism
ORPHA:178487: Adult intestinal toxin-mediated botulism
ORPHA:178487: Infant-like botulism
ORPHA:178506: Brain calcification, Rajab type
ORPHA:178509: Perry syndrome
ORPHA:178509: Parkinsonism with alveolar hypoventilation and mental depression
ORPHA:178512: Folliculotropic mycosis fungoides
ORPHA:178512: Mycosis fungoides-associated follicular mucinosis
ORPHA:178517: Localized pagetoid reticulosis
ORPHA:178517: Pagetoid reticulosis, Woringer-Kolopp type
ORPHA:178522: Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
ORPHA:178528: Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
ORPHA:178528: Berti lymphoma
ORPHA:178528: Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma
ORPHA:178533: Primary cutaneous gamma/delta-positive T-cell lymphoma
ORPHA:178536: Primary cutaneous marginal zone B-cell lymphoma
ORPHA:178536: PCMZL
ORPHA:178540: Primary cutaneous follicle center lymphoma
ORPHA:178540: PCFCL
ORPHA:178544: Primary cutaneous diffuse large B-cell lymphoma, leg type
ORPHA:178544: PCDLBCL,LT
ORPHA:178548: Indolent primary cutaneous T-cell lymphoma
ORPHA:178551: Aggressive primary cutaneous T-cell lymphoma
ORPHA:178554: Aggressive primary cutaneous B-cell lymphoma
ORPHA:178557: Indolent primary cutaneous B-cell lymphoma
ORPHA:178563: Primary cutaneous B-cell lymphoma
ORPHA:178566: Mycosis fungoides and variants
ORPHA:1786: Acrofacial dysostosis, Catania type
ORPHA:1786: Opitz-Caltabiano syndrome
ORPHA:1787: Acrofacial dysostosis, Palagonia type
ORPHA:1788: Acrofacial dysostosis, Rodríguez type
ORPHA:178996: Acquired neutropenia
ORPHA:178996: Immunologic neutropenia
ORPHA:179: Birdshot chorioretinopathy
ORPHA:179: Birdshot chorioretinitis
ORPHA:179: Birdshot retinochoroiditis
ORPHA:179: Birdshot retinochoroidopathy
ORPHA:179: Vitiliginous choroiditis
ORPHA:1790: Hypomandibular faciocranial dysostosis
ORPHA:179006: Primary immunodeficiency due to a defect in adaptive immunity
ORPHA:1791: Frontofacionasal dysplasia
ORPHA:1791: Gollop syndrome
ORPHA:1794: Oculomaxillofacial dysostosis
ORPHA:1794: Richieri-Costa-Gorlin syndrome
ORPHA:179490: Obesity due to congenital leptin resistance
ORPHA:179494: Obesity due to leptin receptor gene deficiency
ORPHA:1797: Autosomal dominant spondylocostal dysostosis
ORPHA:1797: Autosomal dominant spondylocostal dysplasia
ORPHA:1798: Craniofacial dysostosis-diaphyseal hyperplasia syndrome
ORPHA:1798: Autosomal dominant osteosclerosis, Stanescu type
ORPHA:1798: Dysostosis, Stanescu type
ORPHA:1798: Stanescu osteosclerosis
ORPHA:1799: Familial developmental dysphasia
ORPHA:1799: Billard-Toutain-Maheut syndrome
ORPHA:1799: FOXP2-associated dysphasia
ORPHA:18: Distal renal tubular acidosis
ORPHA:18: Classic RTA
ORPHA:18: Familial distal primary acidosis
ORPHA:18: Renal tubular acidosis type 1
ORPHA:18: dRTA
ORPHA:180: Choroideremia
ORPHA:180: CHM
ORPHA:180: Tapetochoroidal dystrophy
ORPHA:180062: Uterovaginal malformation
ORPHA:180065: Non-syndromic uterovaginal malformation
ORPHA:180068: Partial bilateral aplasia of the Müllerian ducts
ORPHA:180068: Incomplete bilateral aplasia of the Müllerian ducts
ORPHA:180071: Unilateral aplasia of the Müllerian ducts
ORPHA:180071: Unicornuate uterus
ORPHA:180074: True unicornuate uterus
ORPHA:180074: Complete unilateral Müllerian aplasia
ORPHA:180074: Complete unilateral aplasia of the Müllerian ducts
ORPHA:180074: Unicornuate uterus without rudimentary horn
ORPHA:180079: Pseudounicornuate uterus
ORPHA:180079: Incomplete unilateral Müllerian aplasia
ORPHA:180079: Incomplete unilateral aplasia of the Müllerian ducts
ORPHA:180079: Unicornuate uterus with rudimentary horn
ORPHA:180086: Didelphys uterus
ORPHA:180086: Bicervical bicornuate uterus
ORPHA:1801: Kyphomelic dysplasia
ORPHA:180106: Bicervical bicornuate uterus and blind hemivagina
ORPHA:180111: Bicervical bicornuate uterus with patent cervix and vagina
ORPHA:180114: Unicervical bicornuate uterus
ORPHA:180122: Septate uterus
ORPHA:180126: Complete septate uterus
ORPHA:180126: Total septate uterus
ORPHA:180129: Partial septate uterus
ORPHA:180129: Subtotal septate uterus
ORPHA:180129: Uterus subseptus
ORPHA:180134: Bicornuate uterus
ORPHA:180139: Uterine hypoplasia
ORPHA:180142: Absence of uterine body
ORPHA:180145: Uterine cervical aplasia and agenesis
ORPHA:180148: Syndromic uterovaginal malformation
ORPHA:180151: Rare vaginal malformation
ORPHA:180154: Septate vagina
ORPHA:180157: Longitudinal vaginal septum
ORPHA:180160: Transverse vaginal septum
ORPHA:180163: Rare breast malformation
ORPHA:180170: Excess breast volume or number
ORPHA:180173: Deficient breast volume or number
ORPHA:180176: Familial juvenile hypertrophy of the breast
ORPHA:180176: Familial juvenile gigantomastia
ORPHA:180176: Virginal breast hypertrophy
ORPHA:180182: Supernumerary breasts
ORPHA:180182: Accessory breasts
ORPHA:180182: Polymastia
ORPHA:180188: Isolated congenital breast hypoplasia/aplasia
ORPHA:180188: Isolated congenital amastia
ORPHA:180193: Syndromic breast hypoplasia/aplasia
ORPHA:180199: Rare non-malformative gynecologic or obstetric disease
ORPHA:1802: Ghosal hematodiaphyseal dysplasia
ORPHA:1802: Diaphyseal dysplasia-anemia syndrome
ORPHA:1802: Ghosal syndrome
ORPHA:180202: Rare non-malformative breast disease
ORPHA:180205: Rare non-malformative uterovaginal or vulvovaginal disease
ORPHA:180208: Anomaly of puberty or/and menstrual cycle
ORPHA:180220: Rare uterine adnexal tumor
ORPHA:180226: Embryonal carcinoma
ORPHA:180229: Polyembryoma
ORPHA:180234: Mixed germ cell tumor
ORPHA:180237: Benign tumor of fallopian tubes
ORPHA:180242: Malignant tumor of fallopian tubes
ORPHA:180242: Cancer of fallopian tubes
ORPHA:180242: Malignant tubal tumor
ORPHA:180242: Tubal cancer
ORPHA:180247: Vaginal carcinoma
ORPHA:180247: Vaginal malignant epithelial tumor
ORPHA:180250: Rare breast tumor
ORPHA:180253: Rare benign breast tumor
ORPHA:180257: Rare malignant breast tumor
ORPHA:180257: Rare breast cancer
ORPHA:180261: Phyllodes tumor of the breast
ORPHA:180267: Giant adenofibroma of the breast
ORPHA:180275: Paget disease of the nipple
ORPHA:180275: Mammary Paget disease
ORPHA:180275: Paget disease of the breast
ORPHA:180275: Paget's disease of the nipple
ORPHA:1803: Thoracomelic dysplasia
ORPHA:1803: Rivera-Perez-Salas syndrome
ORPHA:1803: Thoracolimb dysplasia, Rivera type
ORPHA:180303: Rare non-malformative uterine adnexal disease
ORPHA:180312: Rare vulvovaginal tumor
ORPHA:1806: Ectodermal dysplasia-blindness syndrome
ORPHA:1807: Focal facial dermal dysplasia type III
ORPHA:1807: FFDD type III
ORPHA:1807: FFDD3
ORPHA:1807: Focal facial dermal dysplasia 3, Setleis type
ORPHA:1807: Setleis syndrome
ORPHA:180766: Malformative syndrome with dentinogenesis imperfecta
ORPHA:180772: Rare disease with autism
ORPHA:180776: Non-syndromic diaphragmatic or thoracic malformation
ORPHA:180779: Syndromic diaphragmatic or thoracic malformation
ORPHA:1808: Hidrotic ectodermal dysplasia, Christianson-Fourie type
ORPHA:1808: Christianson-Fourie syndrome
ORPHA:180821: Rare gastroesophageal tumor
ORPHA:180824: Rare tumor of pancreas
ORPHA:180824: Rare pancreatic tumor
ORPHA:1809: Hidrotic ectodermal dysplasia, Halal type
ORPHA:1809: Halal-Setton-Wang syndrome
ORPHA:1809: Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome
ORPHA:181: X-linked hypohidrotic ectodermal dysplasia
ORPHA:181: Christ-Siemens-Touraine syndrome
ORPHA:181: X-linked anhidrotic ectodermal dysplasia
ORPHA:181: XHED
ORPHA:1810: Autosomal dominant hypohidrotic ectodermal dysplasia
ORPHA:1810: AD-HED
ORPHA:1810: Autosomal dominant anhidrotic ectodermal dysplasia
ORPHA:1811: Odontomicronychial dysplasia
ORPHA:1812: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
ORPHA:181368: Rare insulin-resistance syndrome
ORPHA:181371: Rare diabetes mellitus type 1
ORPHA:181371: Rare insulin-dependent diabetes mellitus
ORPHA:181376: Rare diabetes mellitus type 2
ORPHA:181376: Rare insulin-independent diabetes mellitus
ORPHA:181381: Other rare diabetes mellitus
ORPHA:181384: Rare hypothalamic or pituitary disease
ORPHA:181387: Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
ORPHA:181390: Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
ORPHA:181393: Growth hormone insensitivity syndrome
ORPHA:181393: GHIS
ORPHA:181393: Short stature due to a defect in growth hormone receptor or post-receptor pathway
ORPHA:181396: Rare hypothyroidism
ORPHA:181399: Rare hyperthyroidism
ORPHA:181402: Syndrome with hypoparathyroidism
ORPHA:181405: Rare hypoparathyroidism
ORPHA:181408: Rare hyperparathyroidism
ORPHA:181412: Adrenogenital syndrome
ORPHA:181415: Rare primary hyperaldosteronism
ORPHA:181415: Rare primary aldosteronism
ORPHA:181419: Rare hypoaldosteronism
ORPHA:181422: Rare hyperlipidemia
ORPHA:181428: Familial Hyperalphalipoproteinemia
ORPHA:181431: Rare hypolipidemia
ORPHA:181437: Rare syndromic dyslipidemia
ORPHA:181441: Rare disorder with hypergonadotropic hypogonadism
ORPHA:181441: Rare disorder with primary hypogonadism
ORPHA:1816: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
ORPHA:1816: Berlin syndrome
ORPHA:1816: Ectodermal dysplasia, Berlin type
ORPHA:1818: Ectodermal dysplasia, trichoodontoonychial type
ORPHA:182: Chromomycosis
ORPHA:182: Chromoblastomycosis
ORPHA:182040: Rare aplastic anemia
ORPHA:182043: Rare constitutional hemolytic anemia
ORPHA:182047: Rare acquired hemolytic anemia
ORPHA:182050: MYH9-related disease
ORPHA:182050: MYH9-RD
ORPHA:182050: MYH9-related disorder
ORPHA:182050: MYH9-related syndrome
ORPHA:182050: MYH9-related syndromic thrombocytopenia
ORPHA:182054: Rare thrombotic disease of hematologic origin
ORPHA:182058: Primary orthostatic hypotension
ORPHA:182061: Cerebellar malformation
ORPHA:182064: Rare neuroinflammatory or neuroimmunological disease
ORPHA:182067: Glial tumor
ORPHA:182067: Glioma
ORPHA:182070: Rare neurodegenerative disease
ORPHA:182079: ARX-related epileptic encephalopathy
ORPHA:182083: Channelopathy with epilepsy
ORPHA:182086: Acquired peripheral neuropathy
ORPHA:182090: Pulmonary arterial hypertension
ORPHA:182090: PAH
ORPHA:182095: Interstitial lung disease
ORPHA:182095: ILD
ORPHA:182098: Pneumoconiosis
ORPHA:182101: Idiopathic eosinophilic pneumonia
ORPHA:182104: Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
ORPHA:182104: CTD-ILD
ORPHA:182104: Secondary ILD in childhood and adulthood associated with a connective tissue disease
ORPHA:182108: Thoracic malformation
ORPHA:182111: Respiratory malformation
ORPHA:182114: Rare urogenital tumor
ORPHA:182117: Non-syndromic urogenital tract malformation of female
ORPHA:182121: Non-syndromic urogenital tract malformation of male
ORPHA:182124: Non-syndromic urogenital tract malformation of male and female
ORPHA:182127: Extragonadal germinoma
ORPHA:182130: Tumor of endocrine glands
ORPHA:1822: Dysplasia epiphysealis hemimelica
ORPHA:1822: Trevor disease
ORPHA:182222: Rare systemic disease
ORPHA:182228: Systemic autoimmune disease
ORPHA:182231: Rare rheumatologic disease
ORPHA:1824: Lowry-Wood syndrome
ORPHA:1824: Epiphyseal dysplasia-microcephaly-nystagmus syndrome
ORPHA:1825: Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
ORPHA:1825: Epiphyseal dysplasia-deafness-dysmorphism syndrome
ORPHA:1825: Finucane-Kurtz-Scott syndrome
ORPHA:1826: Frontometaphyseal dysplasia
ORPHA:1827: Acromelic frontonasal dysplasia
ORPHA:1827: AFND
ORPHA:1827: Acromelic frontonasal dysostosis
ORPHA:1827: Toriello syndrome