TaoMedAI/RareMedData huggingface dataset:
ORPHA:505242: Cerebrorenal syndrome, Perez type
ORPHA:505248: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
ORPHA:505248: Mucopolysaccharidosis-like plus disease
ORPHA:505395: Ventilator-induced diaphragmatic dysfunction
ORPHA:505395: VIDD
ORPHA:505652: CDKL5-deficiency disorder
ORPHA:505652: CDD
ORPHA:506: Leigh syndrome
ORPHA:506: Infantile subacute necrotizing encephalopathy
ORPHA:506: Leigh disease
ORPHA:506052: Neuroendocrine neoplasm of pancreas
ORPHA:506052: PNEN
ORPHA:506052: Pancreatic NEN
ORPHA:506052: Pancreatic neuroendocrine neoplasm
ORPHA:506060: Functioning neuroendocrine tumor of pancreas
ORPHA:506060: Functioning PNET
ORPHA:506060: Functioning pancreatic NET
ORPHA:506060: Functioning pancreatic neuroendocrine tumor
ORPHA:506060: Functioning well-differentiated NEN of pancreas
ORPHA:506060: Functioning well-differentiated neuroendocrine neoplasm of pancreas
ORPHA:506060: Functioning well-differentiated pancreatic NEN
ORPHA:506060: Functioning well-differentiated pancreatic neuroendocrine neoplasm
ORPHA:506075: Non-functioning neuroendocrine tumor of pancreas
ORPHA:506075: Non-functioning PNET
ORPHA:506075: Non-functioning pancreatic NET
ORPHA:506075: Non-functioning pancreatic neuroendocrine tumor
ORPHA:506075: Non-functioning well-differentiated NEN of pancreas
ORPHA:506075: Non-functioning well-differentiated neuroendocrine neoplasm of pancreas
ORPHA:506075: Non-functioning well-differentiated pancreatic NEN
ORPHA:506075: Non-functioning well-differentiated pancreatic neuroendocrine neoplasm
ORPHA:506090: Serotonin-producing neuroendocrine tumor of pancreas
ORPHA:506090: Serotonin-producing PNET
ORPHA:506090: Serotonin-producing pancreatic NET
ORPHA:506090: Serotonin-producing pancreatic neuroendocrine tumor
ORPHA:506098: Neuroendocrine carcinoma of pancreas
ORPHA:506098: Pancreatic NEC
ORPHA:506098: Pancreatic neuroendocrine carcinoma
ORPHA:506098: Poorly-differentiated NEN of pancreas
ORPHA:506098: Poorly-differentiated neuroendocrine neoplasm of pancreas
ORPHA:506098: Poorly-differentiated pancreatic NEN
ORPHA:506098: Poorly-differentiated pancreatic neuroendocrine neoplasm
ORPHA:506112: Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
ORPHA:506112: MiNEN of pancreas
ORPHA:506112: Pancreatic MiNEN
ORPHA:506112: Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm
ORPHA:506136: Neuroendocrine neoplasm of esophagus
ORPHA:506136: Esophageal NEN
ORPHA:506136: Esophageal neuroendocrine neoplasm
ORPHA:506136: NEN of esophagus
ORPHA:506207: Rare disorder potentially indicated for transplant
ORPHA:506210: Rare disorder potentially indicated for liver transplant
ORPHA:506213: Rare disorder potentially indicated for kidney transplant
ORPHA:506216: Rare disorder potentially indicated for bowel transplant
ORPHA:506219: Rare disorder potentially indicated for hematopoietic stem cell transplant
ORPHA:506222: Rare disorder potentially indicated for lung transplant
ORPHA:506225: Rare disorder potentially indicated for heart transplant
ORPHA:506307: Stromme syndrome
ORPHA:506307: Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome
ORPHA:506307: Jejunal atresia-microcephaly-ocular anomalies syndrome
ORPHA:506334: Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
ORPHA:506334: Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency
ORPHA:506334: SPLIS
ORPHA:506334: Sphingosine phosphate lyase insufficiency syndrome
ORPHA:506353: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
ORPHA:506353: Autosomal recessive complex SPG due to Kennedy pathway dysfunction
ORPHA:506353: Autosomal recessive spastic paraplegia type 81
ORPHA:506358: Gabriele-de Vries syndrome
ORPHA:506358: YY1 haploinsufficiency syndrome
ORPHA:506784: Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
ORPHA:506784: SJS/TEN overlap syndrome
ORPHA:506784: Stevens-Johnson/TEN overlap syndrome
ORPHA:506784: Stevens-Johnson/toxic epidermal necrolysis overlap syndrome
ORPHA:507: Leishmaniasis
ORPHA:508: Leprechaunism
ORPHA:508: Donohue syndrome
ORPHA:50809: Talo-patello-scaphoid osteolysis
ORPHA:50809: Singh-Williams-McAlister syndrome
ORPHA:508093: MEPAN syndrome
ORPHA:508093: Autosomal recessive childhood-onset dystonia, DYT29 type
ORPHA:508093: Childhood-onset generalized dystonia-optic atrophy syndrome
ORPHA:508093: DYT29
ORPHA:508093: Dystonia 29
ORPHA:508093: Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
ORPHA:50810: Microlissencephaly-micromelia syndrome
ORPHA:50810: Basel-Vanagaite-Sirota syndrome
ORPHA:50811: Lipodystrophy-intellectual disability-deafness syndrome
ORPHA:50811: Lipodystrophy-intellectual disability-hearing loss syndrome
ORPHA:50811: Rajab-Spranger syndrome
ORPHA:50812: Zellweger-like syndrome without peroxisomal anomalies
ORPHA:50812: Ahn-Lerman-Sagie syndrome
ORPHA:50814: Craniolenticulosutural dysplasia
ORPHA:50814: Boyadjiev-Jabs syndrome
ORPHA:50815: Branchiogenic deafness syndrome
ORPHA:50815: Branchiogenic hearing loss syndrome
ORPHA:50815: Mégarbané-Loiselet syndrome
ORPHA:50839: Cat-scratch disease
ORPHA:50839: Bartonellosis due to Bartonella henselae infection
ORPHA:508410: Familial intestinal malrotation
ORPHA:508476: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
ORPHA:508476: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome
ORPHA:508476: Hyaluronidase 2 deficiency
ORPHA:508488: 8q24.3 microdeletion syndrome
ORPHA:508488: Del(8)(q24.3)
ORPHA:508488: Deletion 8q24.3
ORPHA:508488: Monosomy 8q24.3
ORPHA:508498: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
ORPHA:508498: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
ORPHA:508501: Oral-facial-digital syndrome with short stature and brachymesophalangy
ORPHA:508501: OFD18
ORPHA:508501: Oral-facial-digital syndrome type 18
ORPHA:508501: Orofaciodigital syndrome type 18
ORPHA:508512: Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
ORPHA:508523: Hyperphenylalaninemia due to DNAJC12 deficiency
ORPHA:508523: Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia
ORPHA:508529: Intermediate epidermolysis bullosa simplex with cardiomyopathy
ORPHA:508529: Intermediate EBS with cardiomyopathy
ORPHA:508533: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
ORPHA:508533: EXTL3-related neuro-immuno-skeletal dysplasia syndrome
ORPHA:508533: Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
ORPHA:508542: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
ORPHA:508542: MYSM1 deficiency
ORPHA:509: Leptospirosis
ORPHA:50918: Kikuchi-Fujimoto disease
ORPHA:50918: Histiocytic necrotizing lymphadenitis
ORPHA:50918: Kikuchi disease
ORPHA:50942: Striate palmoplantar keratoderma
ORPHA:50942: Keratosis palmoplantaris striata
ORPHA:50942: Keratosis palmoplantaris striata et areata
ORPHA:50942: Keratosis palmoplantaris varians of Wachters
ORPHA:50943: Keratolytic winter erythema
ORPHA:50943: Erythrokeratolysis hiemalis
ORPHA:50943: Oudtshoorn disease
ORPHA:50944: Schöpf-Schulz-Passarge syndrome
ORPHA:50944: Eccrine tumors-ectodermal dysplasia
ORPHA:50944: Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
ORPHA:50944: Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
ORPHA:50944: Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
ORPHA:50944: SSPS
ORPHA:50945: Blomstrand lethal chondrodysplasia
ORPHA:50945: BLC
ORPHA:50945: BOCD
ORPHA:50945: Blomstrand chondrodysplasia
ORPHA:50945: Blomstrand osteochondrodysplasia
ORPHA:50945: Chondrodysplasia, Blomstrand type
ORPHA:51: Aicardi-Goutières syndrome
ORPHA:51: Encephalopathy with basal ganglia calcification
ORPHA:51: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
ORPHA:510: Lesch-Nyhan syndrome
ORPHA:510: HPRT complete deficiency
ORPHA:510: HPRT deficiency grade IV
ORPHA:510: Hypoxanthine guanine phosphoribosyltransferase complete deficiency
ORPHA:510: Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
ORPHA:51083: Familial short QT syndrome
ORPHA:51083: SQTS
ORPHA:51084: Torsade-de-pointes syndrome with short coupling interval
ORPHA:511: Maple syrup urine disease
ORPHA:511: BCKD deficiency
ORPHA:511: BCKDH deficiency
ORPHA:511: Branched-chain 2-ketoacid dehydrogenase deficiency
ORPHA:511: Branched-chain ketoaciduria
ORPHA:511: MSUD
ORPHA:51188: Ethylmalonic encephalopathy
ORPHA:512: Metachromatic leukodystrophy
ORPHA:512: Arylsulfatase A deficiency
ORPHA:512: MLD
ORPHA:512017: Chronic lymphoproliferative disorder of natural killer cells
ORPHA:512017: CLPD-NK
ORPHA:512017: CNKL
ORPHA:512017: Chronic NK lymphocytosis
ORPHA:512017: Chronic NK-cell lymphocytosis
ORPHA:512017: Chronic lymphoproliferative disorder of NK-cells
ORPHA:512017: NK-cell lineage granular lymphocyte proliferative disorder
ORPHA:512034: Large granular lymphocyte leukemia
ORPHA:51208: Formiminoglutamic aciduria
ORPHA:51208: FTCD deficiency
ORPHA:51208: Formiminotransferase cyclodeaminase deficiency
ORPHA:51208: Glutamate formiminotransferase deficiency
ORPHA:512103: Autosomal recessive epidermolytic ichthyosis
ORPHA:512103: AREI
ORPHA:512260: Congenital cerebellar ataxia due to RNU12 mutation
ORPHA:513: Acute lymphoblastic leukemia
ORPHA:513: ALL
ORPHA:513: Acute lymphoblastic leukemia/lymphoma
ORPHA:513: Acute lymphocytic leukemia
ORPHA:513: Precursor lymphoid neoplasm
ORPHA:513436: Autosomal recessive spastic paraplegia type 78
ORPHA:513436: SPG78
ORPHA:513456: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
ORPHA:513456: Skraban-Deardorff syndrome
ORPHA:514: Acute monoblastic/monocytic leukemia
ORPHA:514: AML M5
ORPHA:514: Acute monoblastic or monocytic leukemia
ORPHA:514352: Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
ORPHA:514352: Serpentine-like syndrome
ORPHA:514980: ATP13A2-related parkinsonism
ORPHA:51577: Cobblestone lissencephaly
ORPHA:51577: Lissencephaly type 2
ORPHA:51608: Generalized arterial calcification of infancy
ORPHA:51608: Idiopathic infantile arterial calcification
ORPHA:51608: Idiopathic obliterative arteriopathy
ORPHA:51608: Infantile arteriosclerosis
ORPHA:51608: Occlusive infantile arteriopathy
ORPHA:51636: WHIM syndrome
ORPHA:51636: WILM
ORPHA:51636: Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
ORPHA:51636: Warts-infections-leukopenia-myelokatexis syndrome
ORPHA:517: Acute myelomonocytic leukemia
ORPHA:517: AML M4
ORPHA:517: AMMoL
ORPHA:518: Acute megakaryoblastic leukemia
ORPHA:518: AMKL
ORPHA:518: AML M7
ORPHA:518: Acute megakaryocytic leukemia
ORPHA:518: Acute myeloid leukemia M7
ORPHA:51890: Anterior cutaneous nerve entrapment syndrome
ORPHA:51890: ACNES
ORPHA:51890: Intercostal nerve syndrome
ORPHA:51890: Rectus abdominis syndrome
ORPHA:519: Acute myeloid leukemia
ORPHA:519: AML
ORPHA:519: Acute myelogenous leukemia
ORPHA:519264: Inflammatory/autoimmune disorder involving the lacrimal system
ORPHA:519266: Rare disorder of the ocular adnexa
ORPHA:519268: Rare disorder with ectropion
ORPHA:519270: Rare disorder with entropion
ORPHA:519272: Structural developmental eye defect
ORPHA:519274: Syndromic lacrimal system disorder
ORPHA:519276: Anterior segment developmental abnormality with extraocular manifestations
ORPHA:519278: Infective keratitis
ORPHA:519280: Rare conjunctivitis
ORPHA:519282: Rare corneal disorder
ORPHA:519284: Rare disorder of the anterior segment of the eye
ORPHA:519286: Rare disorder of the pupil
ORPHA:519288: Rare disorder with corneal involvement as a major feature
ORPHA:519290: Rare inflammatory/autoimmune corneal disorder
ORPHA:519292: Syndromic ectopia lentis
ORPHA:519294: Syndromic microspherophakia
ORPHA:519296: Rare disorder with pigmented sclera
ORPHA:519298: Rare scleral disorder
ORPHA:519300: Isolated chorioretinal dystrophy
ORPHA:519302: Isolated macular dystrophy
ORPHA:519304: Isolated vitreoretinopathy
ORPHA:519306: Isolated progressive inherited retinal disorder
ORPHA:519309: Rare choroidal disorder
ORPHA:519311: Rare disorder of the posterior segment of the eye
ORPHA:519313: Rare macular disorder
ORPHA:519315: Rare retinal disorder
ORPHA:519317: Rare retinal vasculopathy
ORPHA:519319: Isolated stationary inherited retinal disorder
ORPHA:519321: Syndromic chorioretinal dystrophy
ORPHA:519323: Syndromic macular dystrophy
ORPHA:519325: Syndromic inherited retinal disorder
ORPHA:519325: Syndromic retinal dystrophy
ORPHA:519327: Syndromic vitreoretinopathy
ORPHA:519329: Rare disorder involving multiple structures of the eye
ORPHA:519331: Secondary early-onset glaucoma
ORPHA:519333: Congenital optic disc excavation
ORPHA:519337: Disorder with optic nerve compression
ORPHA:519339: Pseudopapilledema
ORPHA:519341: Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
ORPHA:519343: Rare ophthalmic disorder with cortical involvement
ORPHA:519345: Rare disorder with optic disc malformation
ORPHA:519347: Rare neuromuscular disorder with ocular motility/alignment anomaly
ORPHA:519349: Rare ophthalmic disorder with cranial nerve involvement
ORPHA:519351: Rare optic nerve disorder
ORPHA:519353: Rare trochlear nerve disorder
ORPHA:519355: Rare ocular motility/alignment disorder
ORPHA:519384: Congenital cystic eye
ORPHA:519384: Congenital anophthalmos with cyst
ORPHA:519386: Isolated congenital entropion
ORPHA:519388: Autosomal recessive anterior segment dysgenesis
ORPHA:519390: Isolated blepharochalasis
ORPHA:519392: Isolated iridoschisis
ORPHA:519396: Isolated microspherophakia
ORPHA:519398: Isolated foveal hypoplasia
ORPHA:519400: Peripapillary staphyloma
ORPHA:519402: Isolated megalopapilla
ORPHA:519404: Optic disc pit
ORPHA:519406: Thygeson superficial punctate keratitis
ORPHA:519406: Thygeson superficial punctate keratopathy
ORPHA:519408: Mooren ulcer
ORPHA:519410: Terrien marginal degeneration
ORPHA:519930: Fungal keratitis
ORPHA:519930: Keratomycosis
ORPHA:519930: Mycotic keratitis
ORPHA:52: Alagille syndrome
ORPHA:52: Alagille-Watson syndrome
ORPHA:52: Arteriohepatic dysplasia
ORPHA:52: Syndromic bile duct paucity
ORPHA:520: Acute promyelocytic leukemia
ORPHA:520: AML M3
ORPHA:520: AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
ORPHA:520: APML
ORPHA:520: Acute myeloblastic leukemia 3
ORPHA:520: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
ORPHA:52022: Potocki-Shaffer syndrome
ORPHA:52022: 11p11.2 deletion
ORPHA:52022: Proximal 11p deletion syndrome
ORPHA:52047: Braddock syndrome
ORPHA:52047: Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency
ORPHA:52054: Craniosynostosis-intracranial calcifications syndrome
ORPHA:52054: Longman-Tolmie syndrome
ORPHA:52055: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
ORPHA:52055: Graham-Cox syndrome
ORPHA:52056: Ulnar/fibula ray defect-brachydactyly syndrome
ORPHA:52056: Morava-Mehes syndrome
ORPHA:520814: Rare disorder of the visual organs
ORPHA:520817: Isolated inherited retinal disorder
ORPHA:520820: Progressive external ophthalmoplegia
ORPHA:521: Chronic myeloid leukemia
ORPHA:521: CML
ORPHA:521: Chronic granulocytic leukemia
ORPHA:521: Chronic myelogenous leukemia
ORPHA:521123: Radiation-induced plexopathy
ORPHA:521127: Osteoradionecrosis of the mandible
ORPHA:521132: Radiation-induced disorder
ORPHA:521219: Mirizzi syndrome
ORPHA:521219: Extrinsic biliary compression syndrome
ORPHA:521232: Genetic primary orthostatic disorder
ORPHA:521236: Primary orthostatic disorder
ORPHA:521258: Xq25 microduplication syndrome
ORPHA:521258: Dup(X)(q25)
ORPHA:521258: Xq25 microtriplication
ORPHA:521305: Proximal myopathy with focal depletion of mitochondria
ORPHA:521308: Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
ORPHA:521390: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
ORPHA:521390: SINO syndrome
ORPHA:521406: Dystonia-parkinsonism-hypermanganesemia syndrome
ORPHA:521411: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
ORPHA:521411: Autosomal recessive axonal CMT due to copper metabolism defect
ORPHA:521414: Autosomal dominant Charcot-Marie-Tooth disease type 2DD
ORPHA:521414: ATP1A1-related CMT2
ORPHA:521414: ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
ORPHA:521414: CMT2DD
ORPHA:521426: PLAA-associated neurodevelopmental disorder
ORPHA:521426: PLAAND
ORPHA:521432: Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
ORPHA:521438: Congenital vertebral-cardiac-renal anomalies syndrome
ORPHA:521438: Congenital NAD deficiency disorder
ORPHA:521445: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
ORPHA:521450: LAMA5-related multisystemic syndrome
ORPHA:522037: Primary autoimmune enteropathy
ORPHA:522043: Syndromic autoimmune enteropathy
ORPHA:522077: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
ORPHA:522077: BAGOS
ORPHA:522077: Baker-Gordon syndrome
ORPHA:522077: SYT1-related neurodevelopmental disorder
ORPHA:522504: Rare genetic disorder of the visual organs
ORPHA:522506: Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
ORPHA:522508: Rare genetic ophthalmic disorder with cortical involvement
ORPHA:522510: Rare genetic ophthalmic disorder with cranial nerve involvement
ORPHA:522512: Rare genetic optic nerve disorder
ORPHA:522514: Congenital optic disc excavation of genetic origin
ORPHA:522516: Rare genetic ocular motility/alignment disorder
ORPHA:522518: Rare genetic disorder with strabismus
ORPHA:522520: Syndromic genetic disorder with strabismus
ORPHA:522522: Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
ORPHA:522524: Rare genetic disorder of the ocular adnexa
ORPHA:522526: Rare genetic palpebral disorder
ORPHA:522528: Rare genetic eyelid malposition disorder
ORPHA:522530: Rare genetic disorder with entropion
ORPHA:522532: Rare genetic disorder of the lacrimal apparatus
ORPHA:522534: Lacrimal drainage system anomaly of genetic origin
ORPHA:522536: Structural developmental eye defect of genetic origin
ORPHA:522538: Rare genetic disorder of the anterior segment of the eye
ORPHA:522540: Anterior segment developmental anomaly of genetic origin
ORPHA:522542: Rare genetic disorder with conjunctival involvement as a major feature
ORPHA:522546: Rare genetic disorder with lens opacification
ORPHA:522548: Syndromic genetic cataract
ORPHA:522550: Lens size anomaly of genetic origin
ORPHA:522552: Lens position anomaly of genetic origin
ORPHA:522554: Syndromic genetic ectopia lentis
ORPHA:522556: Rare genetic corneal disorder
ORPHA:522558: Rare genetic disorder with corneal involvement as a major feature
ORPHA:522560: Genetic corneal dystrophy
ORPHA:522562: Genetic superficial corneal dystrophy
ORPHA:522564: Syndromic genetic keratoconus
ORPHA:522566: Rare genetic inflammatory/autoimmune corneal disorder
ORPHA:522568: Rare genetic disorder of the pupil
ORPHA:522570: Rare genetic disorder of the posterior segment of the eye
ORPHA:522572: Rare genetic retinal disorder
ORPHA:522574: Rare genetic macular disorder
ORPHA:522576: Rare genetic retinal vasculopathy
ORPHA:522578: Rare genetic disorder involving multiple structures of the eye
ORPHA:522580: Secondary early-onset glaucoma of genetic origin
ORPHA:522584: Rare genetic choroidal disorder
ORPHA:523: Hereditary leiomyomatosis and renal cell cancer
ORPHA:523: Familial leiomyomatosis and renal cell cancer
ORPHA:523: Familial leiomyomatosis cutis et uteri
ORPHA:523: Familial leiomyomatosis with renal carcinoma
ORPHA:523: Familial multiple cutaneous leiomyomas
ORPHA:523: HLRCC
ORPHA:523: Hereditary leiomyomatosis
ORPHA:523: Hereditary leiomyomatosis with renal carcinoma
ORPHA:523: Hereditary multiple cutaneous leiomyomas
ORPHA:523: MCUL
ORPHA:523: Multiple cutaneous and uterine leiomyomas
ORPHA:523: Reed syndrome
ORPHA:523000: Pediatric-onset glaucoma
ORPHA:52368: Mohr-Tranebjaerg syndrome
ORPHA:52368: DDON syndrome
ORPHA:52368: Deafness-dystonia-optic neuronopathy syndrome
ORPHA:52368: Hearing loss-dystonia-optic neuronopathy syndrome
ORPHA:524: Li-Fraumeni syndrome
ORPHA:52416: Mantle cell lymphoma
ORPHA:52416: LCM
ORPHA:52416: MCL
ORPHA:52416: Mantle zone lymphoma
ORPHA:52417: MALT lymphoma
ORPHA:52417: Extranodal marginal zone B-cell lymphoma
ORPHA:52417: MALToma
ORPHA:52417: Mucosa-associated lymphatic tissue lymphoma
ORPHA:52417: Mucosa-associated lymphoid tissue lymphoma
ORPHA:52427: Retinitis punctata albescens
ORPHA:52427: RPA
ORPHA:52429: Branchiootic syndrome
ORPHA:52430: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
ORPHA:52430: IBMPFD
ORPHA:52430: Limb-girdle muscular dystrophy with Paget disease of bone
ORPHA:52430: Pagetoid amyotrophic lateral sclerosis
ORPHA:52430: Pagetoid neuroskeletal syndrome
ORPHA:525: Lichen planopilaris
ORPHA:525: Follicular lichen planus
ORPHA:525: LPP
ORPHA:525: Lichen follicularis
ORPHA:525: Lichen planus follicularis
ORPHA:52503: X-linked creatine transporter deficiency
ORPHA:52503: Creatine transporter deficiency
ORPHA:52503: SLC6A8 deficiency
ORPHA:52530: Pseudo-von Willebrand disease
ORPHA:52530: PT-VWD
ORPHA:52530: Platelet type-von Willebrand disease
ORPHA:52530: Pseudo-von Willebrand disease type 2B
ORPHA:525677: Genetic congenital malformation of the eye with glaucoma as a major feature
ORPHA:525731: Pediatric-onset Graves disease
ORPHA:525731: Pediatric-onset Basedow disease
ORPHA:525738: Prepubertal anorexia nervosa
ORPHA:526: Liddle syndrome
ORPHA:526: Pseudoaldosteronism
ORPHA:52662: Rare teratologic disease
ORPHA:52662: Acquired embryofetopathy
ORPHA:52688: Myelodysplastic syndrome
ORPHA:527276: Encephalopathy due to mitochondrial and peroxisomal fission defect
ORPHA:527450: Severe myopia-generalized joint laxity-short stature syndrome
ORPHA:527468: Diaphragmatic hernia-short bowel-asplenia syndrome
ORPHA:527497: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
ORPHA:527497: Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia
ORPHA:527497: SPAX8
ORPHA:52759: Vasculitis
ORPHA:52759: Systemic vasculitis
ORPHA:528: Congenital generalized lipodystrophy
ORPHA:528: BSCL
ORPHA:528: Berardinelli-Seip congenital lipodystrophy
ORPHA:528: Berardinelli-Seip syndrome
ORPHA:528: CGL
ORPHA:528: Lipoatrophic diabetes
ORPHA:528084: Non-specific syndromic intellectual disability
ORPHA:528084: Complex neurodevelopmental disorder
ORPHA:528091: Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
ORPHA:528105: Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
ORPHA:528105: HELIX syndrome
ORPHA:528623: Hereditary angioedema with C1Inh deficiency
ORPHA:528623: HAE with C1 inhibitor deficiency
ORPHA:528623: HAE with C1Inh deficiency
ORPHA:528623: Hereditary angioneurotic edema with C1 inhibitor deficiency
ORPHA:528623: Hereditary angioneurotic edema with C1Inh deficiency
ORPHA:528647: Hereditary angioedema with normal C1Inh
ORPHA:528647: HAE with normal C1 inhibitor
ORPHA:528647: HAE with normal C1Inh
ORPHA:528647: Hereditary angioedema with normal C1 inhibitor
ORPHA:528647: Hereditary angioneurotic edema with normal C1 inhibitor
ORPHA:528647: Hereditary angioneurotic edema with normal C1Inh
ORPHA:528663: Acquired angioedema with C1Inh deficiency
ORPHA:528663: Acquired angioneurotic edema with C1 inhibitor deficiency
ORPHA:528663: Acquired angioneurotic edema with C1Inh deficiency
ORPHA:529: Roch-Leri mesosomatous lipomatosis
ORPHA:52901: Isolated follicle stimulating hormone deficiency
ORPHA:52901: Isolated FSH deficiency
ORPHA:529468: Monoclonal mast cell activation syndrome
ORPHA:529468: Monoclonal MCAD
ORPHA:529574: Duane retraction syndrome with congenital deafness
ORPHA:529574: DRS with deafness
ORPHA:529574: DRS with hearing loss
ORPHA:529574: DURS with deafness
ORPHA:529574: DURS with hearing loss
ORPHA:529574: Duane retraction syndrome with congenital hearing loss