TaoMedAI/RareMedData huggingface dataset:
ORPHA:98523: Non-syndromic pontocerebellar hypoplasia
ORPHA:98523: PCH
ORPHA:98523: Pontoneocerebellar atrophy
ORPHA:98523: Pontoneocerebellar hypoplasia
ORPHA:98534: Neurodegenerative disease with dementia
ORPHA:98535: Frontotemporal degeneration with dementia
ORPHA:98538: Ataxia with dementia
ORPHA:98539: Early-onset ataxia with dementia
ORPHA:98540: Late-onset ataxia with dementia
ORPHA:98542: Infectious disease with dementia
ORPHA:98543: Metabolic disease with dementia
ORPHA:98544: Cerebral lipidosis with dementia
ORPHA:98549: Rare cerebrovascular dementia
ORPHA:98553: Developmental defect of the eye
ORPHA:98555: Microphthalmia-anophthalmia-coloboma
ORPHA:98555: Anophthalmia-microphthalmia syndrome
ORPHA:98557: Syndromic aniridia
ORPHA:98560: Rare palpebral disorder
ORPHA:98561: Congenital malformation of the eyelid
ORPHA:98562: Cryptophthalmia
ORPHA:98563: Microblepharon-ablephara syndrome
ORPHA:98564: Eyelid border anomaly
ORPHA:98565: Syndromic ankyloblepharon filiforme adnatum
ORPHA:98565: Syndromic ankyloblepharon
ORPHA:98566: Syndromic eyelid coloboma
ORPHA:98566: Syndromic palpebral coloboma
ORPHA:98567: Rare eyelid malposition disorder
ORPHA:98567: Eyelids malposition disorder
ORPHA:98570: Congenital ectropion
ORPHA:98571: Secondary ectropion
ORPHA:98574: Syndromic epicanthus
ORPHA:98575: Syndromic telecanthus
ORPHA:98576: Syndromic outer canthal malposition
ORPHA:98576: Malposition of external canthus
ORPHA:98578: Rare disorder with ptosis
ORPHA:98594: Rare eyebrow/eyelash disorder
ORPHA:98594: Rare eyebrow/eyelashes anomaly
ORPHA:98602: Rare disorder of the lacrimal apparatus
ORPHA:98602: Rare lacrimal system disease
ORPHA:98604: Congenital alacrima
ORPHA:98605: Lacrimal drainage system anomaly
ORPHA:98605: Excretory apparatus of the lacrimal system anomaly
ORPHA:98606: Syndromic orbital border hypoplasia
ORPHA:98606: Urrets-Zavalia syndrome
ORPHA:98609: EEC syndrome and related disorders
ORPHA:98609: EEC syndrome and related syndrome
ORPHA:98609: Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders
ORPHA:98610: Rare disorder with conjunctival involvement as a major feature
ORPHA:98618: Rare refraction anomaly
ORPHA:98619: Rare isolated myopia
ORPHA:98621: Rare hyperopia and astigmatism
ORPHA:98622: Syndromic hyperopia
ORPHA:98623: Syndromic keratoconus
ORPHA:98625: Superficial corneal dystrophy
ORPHA:98625: Anterior corneal dystrophy
ORPHA:98626: Stromal corneal dystrophy
ORPHA:98627: Posterior corneal dystrophy
ORPHA:98628: Syndromic corneal dystrophy
ORPHA:98631: Congenital malformation of the eye with glaucoma as a major feature
ORPHA:98634: Anterior segment developmental anomaly without extraocular manifestations
ORPHA:98635: Corneodysgenesis
ORPHA:98635: Corneogoniodysgenesis
ORPHA:98638: Rare disease with glaucoma as a major feature
ORPHA:98639: Rare lens disease
ORPHA:98640: Rare disorder with lens opacification
ORPHA:98640: Rare cataract
ORPHA:98641: Syndromic cataract
ORPHA:98642: Chromosomal anomaly with cataract
ORPHA:98644: Metabolic disease with cataract
ORPHA:98646: Renal disease with cataract
ORPHA:98648: Musculoskeletal disease with cataract
ORPHA:98649: Dentocutaneous disease with cataract
ORPHA:98650: Craniofacial anomaly with cataract
ORPHA:98652: Lens size anomaly
ORPHA:98653: Lens position anomaly
ORPHA:98655: Lens shape anomaly
ORPHA:98658: Color-vision disease
ORPHA:98661: Syndromic rod-cone dystrophy
ORPHA:98661: Syndromic retinitis pigmentosa
ORPHA:98668: Vitreoretinopathy
ORPHA:98671: Hereditary optic neuropathy
ORPHA:98672: Autosomal dominant optic atrophy
ORPHA:98672: ADOA
ORPHA:98672: DOA
ORPHA:98673: Autosomal dominant optic atrophy, classic form
ORPHA:98673: Autosomal dominant optic atrophy, Kjer type
ORPHA:98673: Kjer optic atrophy
ORPHA:98673: Optic atrophy type 1
ORPHA:98676: Autosomal recessive isolated optic atrophy
ORPHA:98676: Autosomal recessive non-syndromic optic atrophy
ORPHA:98681: Rare disorder with strabismus
ORPHA:98683: Syndromic disorder with strabismus
ORPHA:98683: Syndrome with a symptomatic strabismus
ORPHA:98684: Craniostenosis with strabismus
ORPHA:98685: Rare oculomotor nerve disorder
ORPHA:98686: Congenital trochlear nerve palsy
ORPHA:98686: Congenital CNIV palsy
ORPHA:98686: Congenital fourth cranial nerve palsy
ORPHA:98686: Congenital superior oblique palsy
ORPHA:98687: Supranuclear eye movement disorder
ORPHA:98688: Oculomotor apraxia
ORPHA:98706: Oculocutaneous or ocular albinism
ORPHA:98715: Uveitis
ORPHA:98716: Heart position anomaly
ORPHA:98717: Transposition of the great arteries and conotruncal cardiac anomaly
ORPHA:98718: Aortic malformation
ORPHA:98719: Pulmonary artery or pulmonary branch anomaly
ORPHA:98720: Atrioventricular valve anomaly
ORPHA:98721: Congenital tricuspid malformation
ORPHA:98722: Atrioventricular septal defect
ORPHA:98722: AVSD
ORPHA:98722: Atrioventricular canal defect
ORPHA:98723: Hypoplastic right heart syndrome
ORPHA:98724: Congenital anomaly of the great arteries
ORPHA:98724: Congenital aorta, aortic arch or  pulmonary arteries anomaly
ORPHA:98725: Ascending aorta anomaly
ORPHA:98727: Rare atrial defect and interatrial communication
ORPHA:98727: Atrial defect and interauricular communication
ORPHA:98729: Congenital pulmonary veins anomaly
ORPHA:98731: Congenital arteriovenous fistula
ORPHA:98733: Noonan syndrome and Noonan-related syndrome
ORPHA:98737: Genetic neurological muscular channelopathy
ORPHA:98738: Neurological muscular channelopathy due to a genetic sodium channel defect
ORPHA:98739: Neurological muscular channelopathy due to a genetic chloride channel defect
ORPHA:98740: Neurological muscular channelopathy due to a genetic calcium channel defect
ORPHA:98741: Neurological muscular channelopathy due to a genetic potassium channel defect
ORPHA:98742: Neurological muscular channelopathy due to a genetic ryanodine receptor defect
ORPHA:98743: Genetic neurological channelopathy of the central nervous system
ORPHA:98744: Neurological channelopathy of the central nervous system due to a genetic sodium channel defect
ORPHA:98745: Neurological channelopathy of the central nervous system due to a genetic calcium channel defect
ORPHA:98746: Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
ORPHA:98747: Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect
ORPHA:98748: Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect
ORPHA:98749: Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect
ORPHA:98750: Autoimmune neurological channelopathy
ORPHA:98754: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
ORPHA:98754: UPD(15)mat
ORPHA:98755: Spinocerebellar ataxia type 1
ORPHA:98755: SCA1
ORPHA:98756: Spinocerebellar ataxia type 2
ORPHA:98756: SCA2
ORPHA:98757: Spinocerebellar ataxia type 3
ORPHA:98757: Azorean disease of the nervous system
ORPHA:98757: MJD
ORPHA:98757: Machado disease
ORPHA:98757: Machado-Joseph disease
ORPHA:98757: Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
ORPHA:98757: SCA3
ORPHA:98758: Spinocerebellar ataxia type 6
ORPHA:98758: SCA6
ORPHA:98759: Spinocerebellar ataxia type 17
ORPHA:98759: HDL4
ORPHA:98759: Huntington disease-like 4
ORPHA:98759: SCA17
ORPHA:98760: Spinocerebellar ataxia type 8
ORPHA:98760: SCA8
ORPHA:98761: Spinocerebellar ataxia type 10
ORPHA:98761: SCA10
ORPHA:98762: Spinocerebellar ataxia type 12
ORPHA:98762: SCA12
ORPHA:98763: Spinocerebellar ataxia type 14
ORPHA:98763: SCA14
ORPHA:98764: Spinocerebellar ataxia type 27A
ORPHA:98764: SCA27A
ORPHA:98765: Spinocerebellar ataxia type 4
ORPHA:98765: SCA4
ORPHA:98766: Spinocerebellar ataxia type 5
ORPHA:98766: SCA5
ORPHA:98767: Spinocerebellar ataxia type 11
ORPHA:98767: SCA11
ORPHA:98768: Spinocerebellar ataxia type 13
ORPHA:98768: SCA13
ORPHA:98769: Spinocerebellar ataxia type 15/16
ORPHA:98769: SCA15/16
ORPHA:98771: Spinocerebellar ataxia type 18
ORPHA:98771: SCA18
ORPHA:98772: Spinocerebellar ataxia type 19/22
ORPHA:98772: SCA19/22
ORPHA:98773: Spinocerebellar ataxia type 21
ORPHA:98773: SCA21
ORPHA:98784: Autosomal dominant nocturnal frontal lobe epilepsy
ORPHA:98784: ADNFLE
ORPHA:98784: Autosomal dominant sleep-related hypermotor epilepsy
ORPHA:98791: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ORPHA:98791: ATR syndrome linked to chromosome 16
ORPHA:98791: ATR syndrome, deletion type
ORPHA:98791: ATR-16 syndrome
ORPHA:98791: Alpha thalassemia-intellectual disability syndrome, deletion type
ORPHA:98793: Prader-Willi syndrome due to paternal 15q11q13 deletion
ORPHA:98794: Angelman syndrome due to maternal 15q11q13 deletion
ORPHA:98794: Angelman syndrome due to maternal monosomy 15q11q13
ORPHA:98795: Angelman syndrome due to paternal uniparental disomy of chromosome 15
ORPHA:98795: UPD(15)pat
ORPHA:98797: Isochromosomy Yp syndrome
ORPHA:98798: Isochromosomy Yq syndrome
ORPHA:988: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
ORPHA:988: Absent tibia-polydactyly syndrome
ORPHA:988: Werner mesomelic spectrum
ORPHA:98805: Primary dystonia, DYT4 type
ORPHA:98805: DYT4
ORPHA:98805: Hereditary whispering dysphonia
ORPHA:98806: Primary dystonia, DYT6 type
ORPHA:98806: DYT6
ORPHA:98806: Generalized cervical and upper-limb-onset dystonia
ORPHA:98806: Idiopathic torsion dystonia of mixed type
ORPHA:98807: Primary dystonia, DYT13 type
ORPHA:98807: DYT13
ORPHA:98807: Primary dystonia with mixed phenotype
ORPHA:98807: Primary torsion dystonia with predominant craniocervical or upper limb onset
ORPHA:98808: Autosomal dominant dopa-responsive dystonia
ORPHA:98808: Autosomal dominant Segawa syndrome
ORPHA:98808: DYT5a
ORPHA:98808: GTPCH1-deficient DRD
ORPHA:98808: GTPCH1-deficient dopa-responsive dystonia
ORPHA:98808: HPD with marked diurnal fluctuation
ORPHA:98808: Hereditary progressive dystonia with marked diurnal fluctuation
ORPHA:98809: Paroxysmal kinesigenic dyskinesia
ORPHA:98809: Familial PKD
ORPHA:98809: Familial paroxysmal kinesigenic dyskinesia
ORPHA:98809: Paroxysmal kinesigenic choreathetosis
ORPHA:98810: Paroxysmal non-kinesigenic dyskinesia
ORPHA:98810: Paroxystic non-kinesigenic choreoathetosis
ORPHA:98811: Paroxysmal exertion-induced dyskinesia
ORPHA:98811: DYT18
ORPHA:98811: Dystonia 18
ORPHA:98811: PED
ORPHA:98813: Hypohidrotic ectodermal dysplasia with immunodeficiency
ORPHA:98813: Anhidrotic ectodermal dysplasia with immunodeficiency
ORPHA:98813: EDA-ID
ORPHA:98813: HED-ID
ORPHA:98815: Self-limited epilepsy with autonomic seizures
ORPHA:98815: Benign childhood occipital epilepsy, Panayiotopoulos type
ORPHA:98815: Early-onset benign childhood occipital epilepsy
ORPHA:98815: Panayiotopoulos syndrome
ORPHA:98815: SeLEAS
ORPHA:98816: Childhood occipital visual epilepsy
ORPHA:98816: COVE
ORPHA:98816: Idiopathic chilldhood occipital epilepsy-Gastaut type
ORPHA:98816: Late-onset benign childhood occipital epilepsy
ORPHA:98818: Landau-Kleffner syndrome
ORPHA:98818: Acquired epileptic aphasia
ORPHA:98818: LKS
ORPHA:98819: Familial temporal lobe epilepsy
ORPHA:98820: Familial focal epilepsy with variable foci
ORPHA:98820: FFEVF
ORPHA:98820: Familial partial epilepsy with variable foci
ORPHA:98823: Chronic myelomonocytic leukemia
ORPHA:98823: CMML
ORPHA:98824: Atypical chronic myeloid leukemia
ORPHA:98824: Subacute myeloid leukemia
ORPHA:98825: Unclassified myelodysplastic/myeloproliferative disease
ORPHA:98825: Unclassified mixed myelodysplastic/myeloproliferatic syndrome
ORPHA:98826: Myelodysplastic neoplasm with low blasts
ORPHA:98826: MDS-LB
ORPHA:98826: Refractory anemia
ORPHA:98827: Unclassified myelodysplastic syndrome
ORPHA:98829: Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
ORPHA:98829: AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
ORPHA:98831: Acute myeloid leukemia with 11q23 abnormalities
ORPHA:98831: AML with 11q23 abnormalities
ORPHA:98832: Acute myeloid leukemia with minimal differentiation
ORPHA:98832: AML M0
ORPHA:98832: Minimally differentiated acute myeloblastic leukemia
ORPHA:98833: Acute myeloblastic leukemia without maturation
ORPHA:98833: AML M1
ORPHA:98833: Acute myeloblastic leukemia M1
ORPHA:98834: Acute myeloblastic leukemia with maturation
ORPHA:98834: AML M2
ORPHA:98834: Acute myeloblastic leukemia M2
ORPHA:98835: Acute undifferentiated leukemia
ORPHA:98835: Acute myeloid leukemia, minimal differentiation, FAB M0
ORPHA:98838: Primary mediastinal large B-cell lymphoma
ORPHA:98838: Large cell lymphoma of the mediastinum
ORPHA:98838: Med-DLBCL
ORPHA:98838: Mediastinal diffuse large-cell lymphoma with sclerosis
ORPHA:98838: Primary mediastinal clear cell lymphoma of B-cell type
ORPHA:98839: Intravascular large B-cell lymphoma
ORPHA:98839: Angioendotheliomatosis proliferans systemisata
ORPHA:98839: Angiotropic large cell lymphoma
ORPHA:98839: Intravascular lymphomatosis
ORPHA:98839: Malignant angioendotheliomatosis
ORPHA:98839: Tappeiner-Pfleger disease
ORPHA:98841: Anaplastic large cell lymphoma
ORPHA:98841: ALCL
ORPHA:98841: CD30 positive anaplastic large cell lymphoma
ORPHA:98841: Ki-1 positive anaplastic large cell lymphoma
ORPHA:98841: Primary systemic ALCL
ORPHA:98841: sACL
ORPHA:98842: Lymphomatoid papulosis
ORPHA:98842: LyP
ORPHA:98843: Classic Hodgkin lymphoma, nodular sclerosis type
ORPHA:98844: Classic Hodgkin lymphoma, mixed cellularity type
ORPHA:98845: Classic Hodgkin lymphoma, lymphocyte-rich type
ORPHA:98846: Classic Hodgkin lymphoma, lymphocyte-depleted type
ORPHA:98848: Indolent systemic mastocytosis
ORPHA:98849: Systemic mastocytosis with associated hematologic neoplasm
ORPHA:98849: SM-AHN
ORPHA:98849: SM-AHNMD
ORPHA:98849: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
ORPHA:98850: Aggressive systemic mastocytosis
ORPHA:98851: Mast cell leukemia
ORPHA:98852: Desquamative interstitial pneumonia
ORPHA:98853: Autosomal dominant Emery-Dreifuss muscular dystrophy
ORPHA:98853: EDMD2
ORPHA:98855: Autosomal recessive Emery-Dreifuss muscular dystrophy
ORPHA:98855: EDMD3
ORPHA:98856: Charcot-Marie-Tooth disease type 2B1
ORPHA:98856: AR-CMT2B1
ORPHA:98856: Autosomal recessive Charcot-Marie-Tooth disease type 2B1
ORPHA:98856: Autosomal recessive axonal CMT4C1
ORPHA:98863: X-linked Emery-Dreifuss muscular dystrophy
ORPHA:98868: Southeast Asian ovalocytosis
ORPHA:98868: Hereditary ovalocytosis
ORPHA:98868: Melanesian elliptocytosis
ORPHA:98868: Melanesian ovalocytosis
ORPHA:98868: SAO
ORPHA:98868: Stomatocytic elliptocytosis
ORPHA:98869: Congenital dyserythropoietic anemia type I
ORPHA:98869: CDA I
ORPHA:98869: CDA type 1
ORPHA:98869: CDA type I
ORPHA:98869: Congenital dyserythropoietic anemia type 1
ORPHA:98870: Congenital dyserythropoietic anemia type III
ORPHA:98870: CDA III
ORPHA:98870: CDA type 3
ORPHA:98870: CDA type III
ORPHA:98870: Congenital dyserythropoietic anemia type 3
ORPHA:98871: Transient erythroblastopenia of childhood
ORPHA:98871: Transient acquired pure red cell aplasia
ORPHA:98872: Primary acquired pure red cell aplasia
ORPHA:98872: Primary acquired PRCA
ORPHA:98873: Congenital dyserythropoietic anemia type II
ORPHA:98873: CDA II
ORPHA:98873: CDA type 2
ORPHA:98873: CDA type II
ORPHA:98873: Congenital dyserythropoietic anemia type 2
ORPHA:98873: Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
ORPHA:98873: SEC23B-CDG
ORPHA:98878: Hemophilia A
ORPHA:98878: Congenital F8 deficiency
ORPHA:98878: Congenital FVIII deficiency
ORPHA:98878: Congenital Factor VIII deficiency
ORPHA:98879: Hemophilia B
ORPHA:98879: Christmas disease
ORPHA:98879: Congenital F9 deficiency
ORPHA:98879: Congenital factor IX deficiency
ORPHA:98880: Familial afibrinogenemia
ORPHA:98881: Familial dysfibrinogenemia
ORPHA:98885: Bleeding diathesis due to glycoprotein VI deficiency
ORPHA:98886: Bleeding diathesis due to integrin alpha2-beta1 deficiency
ORPHA:98888: X-linked complex spastic paraplegia
ORPHA:98888: Complex X-linked HSP
ORPHA:98888: Complex X-linked SPG
ORPHA:98888: Complicated X-linked HSP
ORPHA:98888: Complicated X-linked SPG
ORPHA:98888: X-linked complicated spastic paraplegia
ORPHA:98889: Bilateral perisylvian polymicrogyria
ORPHA:98890: Early-onset X-linked optic atrophy
ORPHA:98890: Non-Leber type optic atrophy with early-onset
ORPHA:98890: OPA2
ORPHA:98890: Optic atrophy type 2
ORPHA:98892: Periventricular nodular heterotopia
ORPHA:98892: PVNH
ORPHA:98893: Congenital muscular dystrophy type 1B
ORPHA:98893: CMD1B
ORPHA:98893: MDC1B
ORPHA:98895: Becker muscular dystrophy
ORPHA:98895: BMD
ORPHA:98895: Becker dystrophinopathy
ORPHA:98896: Duchenne muscular dystrophy
ORPHA:98896: DMD
ORPHA:98896: Severe dystrophinopathy, Duchenne type
ORPHA:98897: Oculopharyngodistal myopathy
ORPHA:98897: OPDM
ORPHA:98897: Oculopharyngeal distal myopathy
ORPHA:989: Hypoglossia-hypodactyly syndrome
ORPHA:989: Aglossia-adactylia syndrome
ORPHA:989: Hanhart syndrome
ORPHA:989: Jussieu syndrome
ORPHA:98902: Amish nemaline myopathy
ORPHA:98904: Congenital myopathy with excess of thin filaments
ORPHA:98904: Actin myopathy
ORPHA:98905: Congenital multicore myopathy with external ophthalmoplegia
ORPHA:98907: Neutral lipid storage disease with ichthyosis
ORPHA:98907: CDS
ORPHA:98907: Chanarin-Dorfman syndrome
ORPHA:98907: DCS
ORPHA:98907: Dorfman-Chanarin syndrome
ORPHA:98907: NLSDI
ORPHA:98908: Neutral lipid storage disease with myopathy
ORPHA:98908: Adipose triglyceride lipase deficiency
ORPHA:98908: NLSDM
ORPHA:98908: Neutral lipid storage disease type M
ORPHA:98908: Neutral lipid storage disease with myopathy without ichthyosis
ORPHA:98909: Desminopathy
ORPHA:98909: Desmin-related myofibrillar myopathy
ORPHA:98910: Alpha-crystallinopathy
ORPHA:98910: CRYAB-related myofobrillar myopathy
ORPHA:98911: Distal myotilinopathy
ORPHA:98912: Late-onset distal myopathy, Markesbery-Griggs type
ORPHA:98912: ZASP-related myofibrillar myopathy
ORPHA:98913: Postsynaptic congenital myasthenic syndromes
ORPHA:98914: Presynaptic congenital myasthenic syndromes
ORPHA:98915: Synaptic congenital myasthenic syndromes
ORPHA:98916: Acute inflammatory demyelinating polyradiculoneuropathy
ORPHA:98916: AIDP
ORPHA:98916: Acute idiopathic demyelinating polyneuropathy
ORPHA:98916: Acute inflammatory polyneuropathy
ORPHA:98916: GBS, acute inflammatory demyelinating polyradiculoneuropathic form
ORPHA:98916: Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form
ORPHA:98917: Acute motor and sensory axonal neuropathy
ORPHA:98917: AMSAN
ORPHA:98917: Acute motor-sensory axonal GBS
ORPHA:98917: Acute motor-sensory axonal Guillain-Barré syndrome
ORPHA:98918: Acute motor axonal neuropathy
ORPHA:98918: AMAN
ORPHA:98918: Acute pure motor GBS
ORPHA:98918: Acute pure motor Guillain-Barré syndrome
ORPHA:98919: Miller Fisher syndrome
ORPHA:98919: Cranial variant of GBS
ORPHA:98919: Cranial variant of Guillain-Barré syndrome
ORPHA:98919: Fisher syndrome
ORPHA:98920: Spinal muscular atrophy with respiratory distress type 1
ORPHA:98920: Autosomal recessive distal spinal muscular atrophy type 1
ORPHA:98920: Autosomal recessive spinal muscular atrophy with respiratory distress
ORPHA:98920: Diaphragmatic spinal muscular atrophy
ORPHA:98920: Distal hereditary motor neuropathy type 6
ORPHA:98920: Distal-HMN type 6
ORPHA:98920: SIANRF
ORPHA:98920: SMARD1
ORPHA:98920: Severe infantile axonal neuropathy with respiratory failure type 1
ORPHA:98920: dHMN6
ORPHA:98920: dSMA1
ORPHA:98922: Blake pouch cyst
ORPHA:98933: Multiple system atrophy, parkinsonian type
ORPHA:98933: MSA, parkinsonian type
ORPHA:98933: MSA-p
ORPHA:98934: Huntington disease-like 2
ORPHA:98934: HDL2
ORPHA:98938: Colobomatous microphthalmia
ORPHA:98938: MAC
ORPHA:98938: Microphthalmia with colobomatous cyst
ORPHA:98938: Microphthalmia-anophthalmia-coloboma syndrome
ORPHA:98942: Coloboma of choroid and retina
ORPHA:98943: Coloboma of eye lens
ORPHA:98944: Coloboma of iris
ORPHA:98945: Coloboma of macula
ORPHA:98946: Coloboma of eyelid
ORPHA:98947: Coloboma of optic disc
ORPHA:98947: Coloboma of optic papilla
ORPHA:98948: Congenital symblepharon
ORPHA:98949: Complete cryptophthalmia
ORPHA:98950: Partial cryptophthalmia
ORPHA:98951: Inverse Marcus-Gunn phenomenon
ORPHA:98954: Meesmann corneal dystrophy
ORPHA:98954: Juvenile hereditary epithelial dystrophy of Meesmann
ORPHA:98954: MECD
ORPHA:98955: Lisch epithelial corneal dystrophy
ORPHA:98955: Band-shaped and whorled microcystic dystrophy of the corneal epithelium
ORPHA:98955: LECD
ORPHA:98956: Epithelial basement membrane dystrophy
ORPHA:98956: Anterior basement membrane dystrophy
ORPHA:98956: Cogan microcystic epithelial dystrophy
ORPHA:98956: EBMD
ORPHA:98956: Map-dot-fingerprint dystrophy
ORPHA:98957: Gelatinous drop-like corneal dystrophy
ORPHA:98957: GDCD
ORPHA:98957: Primary familial amyloidosis of the cornea
ORPHA:98957: Subepithelial amyloidosis of the cornea
ORPHA:98958: Climatic droplet keratopathy
ORPHA:98958: Honey-droplet corneal dystrophy
ORPHA:98959: Subepithelial mucinous corneal dystrophy
ORPHA:98959: SMCD
ORPHA:98960: Thiel-Behnke corneal dystrophy
ORPHA:98960: Anterior limiting membrane dystrophy type 2
ORPHA:98960: Anterior limiting membrane dystrophy type II
ORPHA:98960: Corneal dystrophy of Bowman layer type 2
ORPHA:98960: Corneal dystrophy of Bowman layer type II
ORPHA:98960: Curly fiber corneal dystrophy
ORPHA:98960: Honeycomb corneal dystrophy
ORPHA:98960: TBCD
ORPHA:98960: Waardenburg-Jonker corneal dystrophy
ORPHA:98961: Reis-Bücklers corneal dystrophy
ORPHA:98961: Anterior limiting membrane dystrophy type 1
ORPHA:98961: Anterior limiting membrane dystrophy type I
ORPHA:98961: Atypical granular corneal dystrophy
ORPHA:98961: Corneal dystrophy of Bowman layer type 1
ORPHA:98961: Corneal dystrophy of Bowman layer type I
ORPHA:98961: Geographic corneal dystrophy
ORPHA:98961: Granular corneal dystrophy type 3
ORPHA:98961: Granular corneal dystrophy type III
ORPHA:98961: RBCD
ORPHA:98961: Superficial granular corneal dystrophy
ORPHA:98962: Granular corneal dystrophy type I
ORPHA:98962: Classic GCD
ORPHA:98962: Classic granular corneal dystrophy
ORPHA:98962: Corneal dystrophy Groenouw type I
ORPHA:98962: GCD1
ORPHA:98962: GCDI
ORPHA:98962: Granular corneal dystrophy type 1
ORPHA:98963: Granular corneal dystrophy type II
ORPHA:98963: Avellino corneal dystrophy
ORPHA:98963: GCD2
ORPHA:98963: GCDII
ORPHA:98963: Granular corneal dystrophy type 2
ORPHA:98963: Granular-lattice corneal dystrophy
ORPHA:98964: Lattice corneal dystrophy type I
ORPHA:98964: Biber-Haab-Dimmer dystrophy
ORPHA:98964: Classic lattice corneal dystrophy
ORPHA:98964: LCD1
ORPHA:98964: LCDI
ORPHA:98964: Lattice corneal dystrophy type 1
ORPHA:98967: Schnyder corneal dystrophy
ORPHA:98967: Crystalline stromal dystrophy
ORPHA:98967: Hereditary crystalline stromal dystrophy of Schnyder
ORPHA:98967: SCCD
ORPHA:98967: SCD
ORPHA:98967: Schnyder crystalline corneal dystrophy
ORPHA:98967: Schnyder crystalline dystrophy sine crystals
ORPHA:98969: Macular corneal dystrophy
ORPHA:98969: Corneal dystrophy Groenouw type II
ORPHA:98969: Fehr corneal dystrophy
ORPHA:98969: MCD
ORPHA:98970: Fleck corneal dystrophy
ORPHA:98970: FCD
ORPHA:98970: François-Neetens speckled corneal dystrophy
ORPHA:98971: Posterior amorphous corneal dystrophy
ORPHA:98971: PACD
ORPHA:98971: Posterior amorphous stromal dystrophy
ORPHA:98972: Central cloudy dystrophy of François
ORPHA:98972: CCDF
ORPHA:98972: Central cloudy corneal dystrophy of François
ORPHA:98973: Posterior polymorphous corneal dystrophy
ORPHA:98973: PPCD
ORPHA:98973: Posterior polymorphous dystrophy
ORPHA:98973: Schlichting dystrophy
ORPHA:98974: Fuchs endothelial corneal dystrophy
ORPHA:98974: Endoepithelial corneal dystrophy
ORPHA:98974: FECD
ORPHA:98974: Late hereditary endothelial dystrophy
ORPHA:98976: Congenital glaucoma
ORPHA:98976: Buphthalmia
ORPHA:98976: Buphthalmos
ORPHA:98976: Buphthalmus
ORPHA:98976: Primary congenital glaucoma
ORPHA:98977: Juvenile glaucoma
ORPHA:98978: Axenfeld anomaly
ORPHA:98979: Chandler syndrome
ORPHA:98980: Cogan-Reese syndrome
ORPHA:98981: Essential iris atrophy
ORPHA:98984: Pulverulent cataract
ORPHA:98984: Coppock-like cataract
ORPHA:98984: Dusty cataract
ORPHA:98985: Early-onset sutural cataract
ORPHA:98985: Early-onset cataract with Y-shaped suture opacities
ORPHA:98988: Early-onset anterior polar cataract