MII Implementation Guide Core Dataset Base
2026.0.1 - Release Germany

MII Implementation Guide Core Dataset Base - Downloaded Version 2026.0.1 See the Directory of published versions

## ValueSet: MII VS Diagnose Orphanet (Experimental)

Official URL: https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/ValueSet/mii-vs-diagnose-orphanet | Version: 2026.0.1 | Highlight text changes?
Active as of 2026-06-15 | Computable Name: MII_VS_Diagnose_Orphanet
Copyright/Legal: INSERM US14 (Institut national de la santé et de la recherche médicale)

Enthaelt alle Orpha-Kennnummern (ORPHAcodes)

References

- MII PR Diagnose Condition

### Logical Definition (CLD)

Profiles: Shareable ValueSet, CRMI Shareable ValueSet, CRMI Publishable ValueSet

- Include all codes defined in `http://www.orpha.net` version Not Stated (use latest from terminology server)

### Expansion

Expansion from 127.0.0.1 based on codesystem www.orpha.net version 2025

This value set has 11,239 codes in it. In order to keep the publication size manageable, only a selection (1,000 codes) of the whole set of codes is shown.

System | Code | Display (en) | JSON | XML
`http://www.orpha.net` | 94063 | 12q14 microdeletion syndrome |  |
`http://www.orpha.net` | 94065 | 15q24 microdeletion syndrome |  |
`http://www.orpha.net` | 96078 | 16p13.3 microduplication syndrome |  |
`http://www.orpha.net` | 97685 | 17q11 microdeletion syndrome |  |
`http://www.orpha.net` | 939 | 3-hydroxyisobutyric aciduria |  |
`http://www.orpha.net` | 96095 | 3q26 microduplication syndrome |  |
`http://www.orpha.net` | 90796 | 46,XY difference of sex development due to isolated 17,20-lyase deficiency |  |
`http://www.orpha.net` | 96263 | 48,XXXY syndrome |  |
`http://www.orpha.net` | 99329 | 48,XYYY syndrome |  |
`http://www.orpha.net` | 96264 | 49,XXXXY syndrome |  |
`http://www.orpha.net` | 99330 | 49,XYYYY syndrome |  |
`http://www.orpha.net` | 96072 | 4p16.3 microduplication syndrome |  |
`http://www.orpha.net` | 99135 | 6-phosphogluconate dehydrogenase deficiency |  |
`http://www.orpha.net` | 96121 | 7q11.23 microduplication syndrome |  |
`http://www.orpha.net` | 96092 | 8p inverted duplication/deletion syndrome |  |
`http://www.orpha.net` | 93560 | AApoAI amyloidosis |  |
`http://www.orpha.net` | 915 | Aarskog-Scott syndrome |  |
`http://www.orpha.net` | 916 | Aase-Smith syndrome |  |
`http://www.orpha.net` | 918 | ABCD syndrome |  |
`http://www.orpha.net` | 920 | Ablepharon macrostomia syndrome |  |
`http://www.orpha.net` | 99089 | Abnormal number of coronary ostia |  |
`http://www.orpha.net` | 99050 | Abnormal origin of right or left pulmonary artery from the aorta |  |
`http://www.orpha.net` | 97345 | ABri amyloidosis |  |
`http://www.orpha.net` | 921 | Abruzzo-Erickson syndrome |  |
`http://www.orpha.net` | 99112 | Absence of innominate vein |  |
`http://www.orpha.net` | 980 | Absence of the pulmonary artery |  |
`http://www.orpha.net` | 945 | Acalvaria |  |
`http://www.orpha.net` | 90301 | Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome |  |
`http://www.orpha.net` | 926 | Acatalasemia |  |
`http://www.orpha.net` | 99061 | Accessory mitral valve tissue |  |
`http://www.orpha.net` | 95462 | Accessory tricuspid valve tissue |  |
`http://www.orpha.net` | 99736 | Acetazolamide-responsive myotonia |  |
`http://www.orpha.net` | 99777 | Achalasia-alacrimia syndrome |  |
`http://www.orpha.net` | 929 | Achalasia-microcephaly syndrome |  |
`http://www.orpha.net` | 932 | Achondrogenesis |  |
`http://www.orpha.net` | 93299 | Achondrogenesis type 1A |  |
`http://www.orpha.net` | 93298 | Achondrogenesis type 1B |  |
`http://www.orpha.net` | 93296 | Achondrogenesis type 2 |  |
`http://www.orpha.net` | 95626 | Acquired arginine vasopressin deficiency |  |
`http://www.orpha.net` | 91136 | Acquired monoclonal Ig light chain-associated Fanconi syndrome |  |
`http://www.orpha.net` | 99147 | Acquired von Willebrand syndrome |  |
`http://www.orpha.net` | 90396 | Acral persistent papular mucinosis |  |
`http://www.orpha.net` | 958 | Acro-renal-mandibular syndrome |  |
`http://www.orpha.net` | 959 | Acro-renal-ocular syndrome |  |
`http://www.orpha.net` | 949 | Acrocraniofacial dysostosis |  |
`http://www.orpha.net` | 952 | Acrofacial dysostosis, Weyers type |  |
`http://www.orpha.net` | 965 | Acromegaloid facial appearance syndrome |  |
`http://www.orpha.net` | 963 | Acromegaly |  |
`http://www.orpha.net` | 964 | Acromegaly-cutis verticis gyrata-corneal leukoma syndrome |  |
`http://www.orpha.net` | 968 | Acromesomelic dysplasia, Hunter-Thompson type |  |
`http://www.orpha.net` | 956 | Acropectororenal dysplasia |  |
`http://www.orpha.net` | 957 | Acropectorovertebral dysplasia |  |
`http://www.orpha.net` | 971 | Acrorenal syndrome |  |
`http://www.orpha.net` | 99892 | ACTH-dependent Cushing syndrome |  |
`http://www.orpha.net` | 98837 | Acute biphenotypic leukemia |  |
`http://www.orpha.net` | 99920 | Acute graft versus host disease |  |
`http://www.orpha.net` | 98916 | Acute inflammatory demyelinating polyradiculoneuropathy |  |
`http://www.orpha.net` | 99887 | Acute megakaryoblastic leukemia in children with Down syndrome |  |
`http://www.orpha.net` | 98917 | Acute motor and sensory axonal neuropathy |  |
`http://www.orpha.net` | 98918 | Acute motor axonal neuropathy |  |
`http://www.orpha.net` | 98834 | Acute myeloblastic leukemia with maturation |  |
`http://www.orpha.net` | 98833 | Acute myeloblastic leukemia without maturation |  |
`http://www.orpha.net` | 98831 | Acute myeloid leukemia with 11q23 abnormalities |  |
`http://www.orpha.net` | 98829 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) |  |
`http://www.orpha.net` | 98832 | Acute myeloid leukemia with minimal differentiation |  |
`http://www.orpha.net` | 98835 | Acute undifferentiated leukemia |  |
`http://www.orpha.net` | 99901 | Acyl-CoA dehydrogenase 9 deficiency |  |
`http://www.orpha.net` | 974 | Adams-Oliver syndrome |  |
`http://www.orpha.net` | 97346 | ADan amyloidosis |  |
`http://www.orpha.net` | 976 | Adenine phosphoribosyltransferase deficiency |  |
`http://www.orpha.net` | 99976 | Adenocarcinoma of the oesophagus and oesophagogastric junction |  |
`http://www.orpha.net` | 95512 | Adenohypophysitis |  |
`http://www.orpha.net` | 93292 | Adenoma of pancreas |  |
`http://www.orpha.net` | 91127 | Adenovirus infection in immunocompromised patients |  |
`http://www.orpha.net` | 977 | Adrenomyodystrophy |  |
`http://www.orpha.net` | 978 | ADULT syndrome |  |
`http://www.orpha.net` | 99027 | Adult-onset autosomal dominant leukodystrophy |  |
`http://www.orpha.net` | 99000 | Adult-onset foveomacular vitelliform dystrophy |  |
`http://www.orpha.net` | 93562 | AFib amyloidosis |  |
`http://www.orpha.net` | 99114 | Agenesis of the superior vena cava |  |
`http://www.orpha.net` | 990 | Agnathia-holoprosencephaly-situs inversus syndrome |  |
`http://www.orpha.net` | 998 | Albinism-deafness syndrome |  |
`http://www.orpha.net` | 93925 | Alobar holoprosencephaly |  |
`http://www.orpha.net` | 98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 |  |
`http://www.orpha.net` | 99756 | Alveolar rhabdomyosarcoma |  |
`http://www.orpha.net` | 99694 | Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome |  |
`http://www.orpha.net` | 93561 | ALys amyloidosis |  |
`http://www.orpha.net` | 99742 | Amish lethal microcephaly |  |
`http://www.orpha.net` | 98902 | Amish nemaline myopathy |  |
`http://www.orpha.net` | 93347 | Anauxetic dysplasia |  |
`http://www.orpha.net` | 98794 | Angelman syndrome due to maternal 15q11q13 deletion |  |
`http://www.orpha.net` | 98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 |  |
`http://www.orpha.net` | 95429 | Angioma serpiginosum |  |
`http://www.orpha.net` | 99797 | Anodontia |  |
`http://www.orpha.net` | 95463 | Anomaly of the tricuspid subvalvular apparatus |  |
`http://www.orpha.net` | 94150 | Anonychia congenita totalis |  |
`http://www.orpha.net` | 90390 | Anonychia-onychodystrophy syndrome |  |
`http://www.orpha.net` | 91129 | Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome |  |
`http://www.orpha.net` | 93976 | Anotia |  |
`http://www.orpha.net` | 99071 | Aorto-left ventricular tunnel |  |
`http://www.orpha.net` | 99070 | Aorto-right ventricular tunnel |  |
`http://www.orpha.net` | 99981 | Apnea of prematurity |  |
`http://www.orpha.net` | 91 | Aromatase deficiency |  |
`http://www.orpha.net` | 93 | Aspartylglucosaminuria |  |
`http://www.orpha.net` | 96 | Ataxia with vitamin E deficiency |  |
`http://www.orpha.net` | 95713 | Athyreosis |  |
`http://www.orpha.net` | 95510 | Atrial appendage anomaly |  |
`http://www.orpha.net` | 99107 | Atrial septal aneurysm |  |
`http://www.orpha.net` | 99104 | Atrial septal defect, coronary sinus type |  |
`http://www.orpha.net` | 99106 | Atrial septal defect, ostium primum type |  |
`http://www.orpha.net` | 99103 | Atrial septal defect, ostium secundum type |  |
`http://www.orpha.net` | 99105 | Atrial septal defect, sinus venosus type |  |
`http://www.orpha.net` | 98824 | Atypical chronic myeloid leukemia |  |
`http://www.orpha.net` | 93581 | Atypical hemolytic uremic syndrome with anti-factor H antibodies |  |
`http://www.orpha.net` | 93304 | Autosomal dominant brachyolmia |  |
`http://www.orpha.net` | 99946 | Autosomal dominant Charcot-Marie-Tooth disease type 2A1 |  |
`http://www.orpha.net` | 99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 |  |
`http://www.orpha.net` | 99936 | Autosomal dominant Charcot-Marie-Tooth disease type 2B |  |
`http://www.orpha.net` | 99937 | Autosomal dominant Charcot-Marie-Tooth disease type 2C |  |
`http://www.orpha.net` | 99938 | Autosomal dominant Charcot-Marie-Tooth disease type 2D |  |
`http://www.orpha.net` | 99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E |  |
`http://www.orpha.net` | 99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F |  |
`http://www.orpha.net` | 99941 | Autosomal dominant Charcot-Marie-Tooth disease type 2G |  |
`http://www.orpha.net` | 99942 | Autosomal dominant Charcot-Marie-Tooth disease type 2I |  |
`http://www.orpha.net` | 99943 | Autosomal dominant Charcot-Marie-Tooth disease type 2J |  |
`http://www.orpha.net` | 99944 | Autosomal dominant Charcot-Marie-Tooth disease type 2K |  |
`http://www.orpha.net` | 99945 | Autosomal dominant Charcot-Marie-Tooth disease type 2L |  |
`http://www.orpha.net` | 90348 | Autosomal dominant cutis laxa |  |
`http://www.orpha.net` | 93608 | Autosomal dominant distal renal tubular acidosis |  |
`http://www.orpha.net` | 98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy |  |
`http://www.orpha.net` | 93114 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E |  |
`http://www.orpha.net` | 93325 | Autosomal dominant Kenny-Caffey syndrome |  |
`http://www.orpha.net` | 99846 | Autosomal dominant myoglobinuria |  |
`http://www.orpha.net` | 93328 | Autosomal dominant omodysplasia |  |
`http://www.orpha.net` | 98673 | Autosomal dominant optic atrophy, classic form |  |
`http://www.orpha.net` | 95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome |  |
`http://www.orpha.net` | 90349 | Autosomal recessive cutis laxa type 1 |  |
`http://www.orpha.net` | 93611 | Autosomal recessive distal renal tubular acidosis with deafness |  |
`http://www.orpha.net` | 93609 | Autosomal recessive distal renal tubular acidosis without deafness |  |
`http://www.orpha.net` | 98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy |  |
`http://www.orpha.net` | 93324 | Autosomal recessive Kenny-Caffey syndrome |  |
`http://www.orpha.net` | 93329 | Autosomal recessive omodysplasia |  |
`http://www.orpha.net` | 93607 | Autosomal recessive proximal renal tubular acidosis |  |
`http://www.orpha.net` | 95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome |  |
`http://www.orpha.net` | 98978 | Axenfeld anomaly |  |
`http://www.orpha.net` | 99121 | Azygos continuation of the inferior vena cava |  |
`http://www.orpha.net` | 93395 | Ballard syndrome |  |
`http://www.orpha.net` | 93605 | Bartter syndrome type 3 |  |
`http://www.orpha.net` | 98895 | Becker muscular dystrophy |  |
`http://www.orpha.net` | 96076 | Beckwith-Wiedemann syndrome due to 11p15 microduplication |  |
`http://www.orpha.net` | 96193 | Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 |  |
`http://www.orpha.net` | 99960 | Benign recurrent intrahepatic cholestasis type 1 |  |
`http://www.orpha.net` | 99961 | Benign recurrent intrahepatic cholestasis type 2 |  |
`http://www.orpha.net` | 99771 | Bifid uvula |  |
`http://www.orpha.net` | 97364 | Bilateral multicystic dysplastic kidney |  |
`http://www.orpha.net` | 98889 | Bilateral perisylvian polymicrogyria |  |
`http://www.orpha.net` | 98836 | Bilineal acute leukemia |  |
`http://www.orpha.net` | 98922 | Blake pouch cyst |  |
`http://www.orpha.net` | 98885 | Bleeding diathesis due to glycoprotein VI deficiency |  |
`http://www.orpha.net` | 98886 | Bleeding diathesis due to integrin alpha2-beta1 deficiency |  |
`http://www.orpha.net` | 93964 | Blepharospasm-oromandibular dystonia syndrome |  |
`http://www.orpha.net` | 94086 | Blue diaper syndrome |  |
`http://www.orpha.net` | 91135 | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency |  |
`http://www.orpha.net` | 97297 | Bohring-Opitz syndrome |  |
`http://www.orpha.net` | 93388 | Brachydactyly type A1 |  |
`http://www.orpha.net` | 93396 | Brachydactyly type A2 |  |
`http://www.orpha.net` | 93394 | Brachydactyly type A4 |  |
`http://www.orpha.net` | 93389 | Brachydactyly type A5 |  |
`http://www.orpha.net` | 93382 | Brachydactyly type A6 |  |
`http://www.orpha.net` | 93397 | Brachydactyly type A7 |  |
`http://www.orpha.net` | 93384 | Brachydactyly type C |  |
`http://www.orpha.net` | 93387 | Brachydactyly type E |  |
`http://www.orpha.net` | 93409 | Brachydactyly-syndactyly, Zhao type |  |
`http://www.orpha.net` | 93301 | Brachyolmia type 1, Hobaek type |  |
`http://www.orpha.net` | 93303 | Brachyolmia type 1, Toledo type |  |
`http://www.orpha.net` | 93302 | Brachyolmia, Maroteaux type |  |
`http://www.orpha.net` | 99990 | Brill-Zinsser disease |  |
`http://www.orpha.net` | 90354 | Brittle cornea syndrome |  |
`http://www.orpha.net` | 97287 | Bronchial neuroendocrine tumor |  |
`http://www.orpha.net` | 99001 | Butterfly-shaped pigment dystrophy |  |
`http://www.orpha.net` | 93559 | C3 deposition glomerulonephritis without proliferation |  |
`http://www.orpha.net` | 97292 | Cardiogenic shock |  |
`http://www.orpha.net` | 91130 | Cardiomyopathy-hypotonia-lactic acidosis syndrome |  |
`http://www.orpha.net` | 97355 | Caribbean parkinsonism |  |
`http://www.orpha.net` | 97286 | Carney-Stratakis syndrome |  |
`http://www.orpha.net` | 93973 | Carpenter-Waziri syndrome |  |
`http://www.orpha.net` | 98972 | Central cloudy dystrophy of François |  |
`http://www.orpha.net` | 98968 | Central discoid corneal dystrophy |  |
`http://www.orpha.net` | 90156 | Centrifugal lipodystrophy |  |
`http://www.orpha.net` | 94122 | Cerebellar ataxia, Cayman type |  |
`http://www.orpha.net` | 94084 | Cerebro-oculo-facial-lymphatic syndrome |  |
`http://www.orpha.net` | 909 | Cerebrotendinous xanthomatosis |  |
`http://www.orpha.net` | 98989 | Cerulean cataract |  |
`http://www.orpha.net` | 99079 | Cervical aortic arch |  |
`http://www.orpha.net` | 98979 | Chandler syndrome |  |
`http://www.orpha.net` | 90658 | Charcot-Marie-Tooth disease type 1E |  |
`http://www.orpha.net` | 98856 | Charcot-Marie-Tooth disease type 2B1 |  |
`http://www.orpha.net` | 99948 | Charcot-Marie-Tooth disease type 4A |  |
`http://www.orpha.net` | 99955 | Charcot-Marie-Tooth disease type 4B1 |  |
`http://www.orpha.net` | 99956 | Charcot-Marie-Tooth disease type 4B2 |  |
`http://www.orpha.net` | 99949 | Charcot-Marie-Tooth disease type 4C |  |
`http://www.orpha.net` | 99950 | Charcot-Marie-Tooth disease type 4D |  |
`http://www.orpha.net` | 99951 | Charcot-Marie-Tooth disease type 4E |  |
`http://www.orpha.net` | 99952 | Charcot-Marie-Tooth disease type 4F |  |
`http://www.orpha.net` | 99953 | Charcot-Marie-Tooth disease type 4G |  |
`http://www.orpha.net` | 99954 | Charcot-Marie-Tooth disease type 4H |  |
`http://www.orpha.net` | 99647 | Cheirospondyloenchondromatosis |  |
`http://www.orpha.net` | 90280 | Chilblain lupus |  |
`http://www.orpha.net` | 98816 | Childhood occipital visual epilepsy |  |
`http://www.orpha.net` | 99921 | Chronic graft versus host disease |  |
`http://www.orpha.net` | 98823 | Chronic myelomonocytic leukemia |  |
`http://www.orpha.net` | 91359 | Chronic pneumonitis of infancy |  |
`http://www.orpha.net` | 93971 | Chudley-Lowry-Hoar syndrome |  |
`http://www.orpha.net` | 93930 | Classic bladder exstrophy |  |
`http://www.orpha.net` | 98846 | Classic Hodgkin lymphoma, lymphocyte-depleted type |  |
`http://www.orpha.net` | 98845 | Classic Hodgkin lymphoma, lymphocyte-rich type |  |
`http://www.orpha.net` | 98844 | Classic Hodgkin lymphoma, mixed cellularity type |  |
`http://www.orpha.net` | 98843 | Classic Hodgkin lymphoma, nodular sclerosis type |  |
`http://www.orpha.net` | 95465 | Cleft mitral valve |  |
`http://www.orpha.net` | 99772 | Cleft velum |  |
`http://www.orpha.net` | 98958 | Climatic droplet keratopathy |  |
`http://www.orpha.net` | 93929 | Cloacal exstrophy |  |
`http://www.orpha.net` | 93267 | Cloverleaf skull-multiple congenital anomalies syndrome |  |
`http://www.orpha.net` | 90321 | Cockayne syndrome type 1 |  |
`http://www.orpha.net` | 90322 | Cockayne syndrome type 2 |  |
`http://www.orpha.net` | 90324 | Cockayne syndrome type 3 |  |
`http://www.orpha.net` | 95428 | COG8-CDG |  |
`http://www.orpha.net` | 98980 | Cogan-Reese syndrome |  |
`http://www.orpha.net` | 98942 | Coloboma of choroid and retina |  |
`http://www.orpha.net` | 98943 | Coloboma of eye lens |  |
`http://www.orpha.net` | 98946 | Coloboma of eyelid |  |
`http://www.orpha.net` | 98944 | Coloboma of iris |  |
`http://www.orpha.net` | 98945 | Coloboma of macula |  |
`http://www.orpha.net` | 98947 | Coloboma of optic disc |  |
`http://www.orpha.net` | 98938 | Colobomatous microphthalmia |  |
`http://www.orpha.net` | 911 | Combined immunodeficiency due to ZAP70 deficiency |  |
`http://www.orpha.net` | 95494 | Combined pituitary hormone deficiencies, genetic forms |  |
`http://www.orpha.net` | 98864 | Common hereditary elliptocytosis |  |
`http://www.orpha.net` | 99429 | Complete androgen insensitivity syndrome |  |
`http://www.orpha.net` | 99067 | Complete atrioventricular septal defect with ventricular hypoplasia |  |
`http://www.orpha.net` | 99068 | Complete atrioventricular septal defect-tetralogy of Fallot |  |
`http://www.orpha.net` | 98949 | Complete cryptophthalmia |  |
`http://www.orpha.net` | 99995 | Complex regional pain syndrome type 1 |  |
`http://www.orpha.net` | 99994 | Complex regional pain syndrome type 2 |  |
`http://www.orpha.net` | 90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency |  |
`http://www.orpha.net` | 90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency |  |
`http://www.orpha.net` | 90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency |  |
`http://www.orpha.net` | 95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |  |
`http://www.orpha.net` | 95507 | Congenital anomaly of hepatic vein |  |
`http://www.orpha.net` | 95500 | Congenital anomaly of the coronary sinus |  |
`http://www.orpha.net` | 99055 | Congenital anomaly of the tricuspid valve chordae |  |
`http://www.orpha.net` | 95448 | Congenital aortic valve atresia |  |
`http://www.orpha.net` | 93177 | Congenital bilateral megacalycosis |  |
`http://www.orpha.net` | 99129 | Congenital complete agenesis of pericardium |  |
`http://www.orpha.net` | 95491 | Congenital coronary artery aneurysm |  |
`http://www.orpha.net` | 98869 | Congenital dyserythropoietic anemia type I |  |
`http://www.orpha.net` | 98873 | Congenital dyserythropoietic anemia type II |  |
`http://www.orpha.net` | 98870 | Congenital dyserythropoietic anemia type III |  |
`http://www.orpha.net` | 91491 | Congenital ectropion uveae |  |
`http://www.orpha.net` | 91358 | Congenital esophageal diverticulum |  |
`http://www.orpha.net` | 99176 | Congenital eyelid retraction |  |
`http://www.orpha.net` | 99095 | Congenital Gerbode defect |  |
`http://www.orpha.net` | 98976 | Congenital glaucoma |  |
`http://www.orpha.net` | 98975 | Congenital hereditary endothelial dystrophy type I |  |
`http://www.orpha.net` | 91413 | Congenital Horner syndrome |  |
`http://www.orpha.net` | 95711 | Congenital hypothyroidism due to developmental anomaly |  |
`http://www.orpha.net` | 95715 | Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies |  |
`http://www.orpha.net` | 93109 | Congenital megacalycosis |  |
`http://www.orpha.net` | 99057 | Congenital mitral stenosis |  |
`http://www.orpha.net` | 98905 | Congenital multicore myopathy with external ophthalmoplegia |  |
`http://www.orpha.net` | 98893 | Congenital muscular dystrophy type 1B |  |
`http://www.orpha.net` | 98904 | Congenital myopathy with excess of thin filaments |  |
`http://www.orpha.net` | 99130 | Congenital partial agenesis of pericardium |  |
`http://www.orpha.net` | 99124 | Congenital partial pulmonary venous return anomaly |  |
`http://www.orpha.net` | 99072 | Congenital patent ductus arteriosus aneurysm |  |
`http://www.orpha.net` | 91411 | Congenital ptosis |  |
`http://www.orpha.net` | 99126 | Congenital pulmonary vein atresia |  |
`http://www.orpha.net` | 97598 | Congenital renal artery stenosis |  |
`http://www.orpha.net` | 93400 | Congenital sialidosis type 2 |  |
`http://www.orpha.net` | 99122 | Congenital stenosis of the inferior vena cava |  |
`http://www.orpha.net` | 99059 | Congenital supravalvular mitral ring |  |
`http://www.orpha.net` | 98948 | Congenital symblepharon |  |
`http://www.orpha.net` | 93583 | Congenital thrombotic thrombocytopenic purpura |  |
`http://www.orpha.net` | 95718 | Congenital thyroid malformation without hypothyroidism |  |
`http://www.orpha.net` | 99125 | Congenital total pulmonary venous return anomaly |  |
`http://www.orpha.net` | 95430 | Congenital tracheomalacia |  |
`http://www.orpha.net` | 95459 | Congenital tricuspid stenosis |  |
`http://www.orpha.net` | 98686 | Congenital trochlear nerve palsy |  |
`http://www.orpha.net` | 92050 | Congenital tufting enteropathy |  |
`http://www.orpha.net` | 99060 | Congenital unguarded mitral orifice |  |
`http://www.orpha.net` | 99042 | Congenitally uncorrected transposition of the great arteries with coarctation |  |
`http://www.orpha.net` | 99098 | Cor triatriatum dexter |  |
`http://www.orpha.net` | 99099 | Cor triatriatum sinister |  |
`http://www.orpha.net` | 98990 | Coralliform cataract |  |
`http://www.orpha.net` | 98635 | Corneodysgenesis |  |
`http://www.orpha.net` | 99087 | Coronary ostial stenosis or atresia |  |
`http://www.orpha.net` | 99118 | Coronary sinus atresia |  |
`http://www.orpha.net` | 99117 | Coronary sinus stenosis |  |
`http://www.orpha.net` | 93943 | Corpus callosum dysgenesis-hypopituitarism syndrome |  |
`http://www.orpha.net` | 99854 | Cree leukoencephalopathy |  |
`http://www.orpha.net` | 90290 | CREST syndrome |  |
`http://www.orpha.net` | 99827 | Crimean-Congo hemorrhagic fever |  |
`http://www.orpha.net` | 93262 | Crouzon syndrome-acanthosis nigricans syndrome |  |
`http://www.orpha.net` | 91138 | Cryoglobulinemic vasculitis |  |
`http://www.orpha.net` | 96253 | Cushing disease |  |
`http://www.orpha.net` | 99889 | Cushing syndrome due to ectopic ACTH secretion |  |
`http://www.orpha.net` | 93612 | Cystinuria type A |  |
`http://www.orpha.net` | 93613 | Cystinuria type B |  |
`http://www.orpha.net` | 94087 | Cytophagic histiocytic panniculitis |  |
`http://www.orpha.net` | 941 | D-glyceric aciduria |  |
`http://www.orpha.net` | 99645 | Dappled diaphyseal dysplasia |  |
`http://www.orpha.net` | 90646 | Deafness-hypogonadism syndrome |  |
`http://www.orpha.net` | 94064 | Deafness-infertility syndrome |  |
`http://www.orpha.net` | 99970 | Dedifferentiated liposarcoma |  |
`http://www.orpha.net` | 97353 | Dementia pugilistica |  |
`http://www.orpha.net` | 99828 | Dengue fever |  |
`http://www.orpha.net` | 93571 | Dense deposit disease |  |
`http://www.orpha.net` | 93622 | Dent disease type 1 |  |
`http://www.orpha.net` | 93623 | Dent disease type 2 |  |
`http://www.orpha.net` | 99789 | Dentin dysplasia type I |  |
`http://www.orpha.net` | 99791 | Dentin dysplasia type II |  |
`http://www.orpha.net` | 99792 | Dentin dysplasia-sclerotic bones syndrome |  |
`http://www.orpha.net` | 99688 | Dermotrichic syndrome |  |
`http://www.orpha.net` | 98852 | Desquamative interstitial pneumonia |  |
`http://www.orpha.net` | 90281 | Discoid lupus erythematosus |  |
`http://www.orpha.net` | 99052 | Discrete fibromuscular subaortic stenosis |  |
`http://www.orpha.net` | 99051 | Discrete fixed membranous subaortic stenosis |  |
`http://www.orpha.net` | 90394 | Discrete papular lichen myxedematosus |  |
`http://www.orpha.net` | 96148 | Distal deletion 10q syndrome |  |
`http://www.orpha.net` | 96149 | Distal deletion 12q syndrome |  |
`http://www.orpha.net` | 96150 | Distal deletion 14q syndrome |  |
`http://www.orpha.net` | 96129 | Distal deletion 19p syndrome |  |
`http://www.orpha.net` | 96145 | Distal deletion 4q syndrome |  |
`http://www.orpha.net` | 96125 | Distal deletion 6p syndrome |  |
`http://www.orpha.net` | 96126 | Distal deletion 7p syndrome |  |
`http://www.orpha.net` | 96102 | Distal duplication 10q syndrome |  |
`http://www.orpha.net` | 96103 | Distal duplication 11q syndrome |  |
`http://www.orpha.net` | 96105 | Distal duplication 13q syndrome |  |
`http://www.orpha.net` | 96106 | Distal duplication 16q syndrome |  |
`http://www.orpha.net` | 96069 | Distal duplication 1p36 syndrome |  |
`http://www.orpha.net` | 96107 | Distal duplication 20q syndrome |  |
`http://www.orpha.net` | 96109 | Distal duplication 22q syndrome |  |
`http://www.orpha.net` | 96070 | Distal duplication 2p syndrome |  |
`http://www.orpha.net` | 96094 | Distal duplication 2q syndrome |  |
`http://www.orpha.net` | 96071 | Distal duplication 3p syndrome |  |
`http://www.orpha.net` | 96096 | Distal duplication 4q syndrome |  |
`http://www.orpha.net` | 96097 | Distal duplication 5q syndrome |  |
`http://www.orpha.net` | 96098 | Distal duplication 6q syndrome |  |
`http://www.orpha.net` | 96074 | Distal duplication 7p syndrome |  |
`http://www.orpha.net` | 96100 | Distal duplication 8q syndrome |  |
`http://www.orpha.net` | 96101 | Distal duplication 9q syndrome |  |
`http://www.orpha.net` | 93610 | Distal renal tubular acidosis with anemia |  |
`http://www.orpha.net` | 91131 | DK1-CDG |  |
`http://www.orpha.net` | 99047 | Double outlet right ventricle with doubly committed ventricular septal defect |  |
`http://www.orpha.net` | 99046 | Double outlet right ventricle with non-committed subpulmonary ventricular septal defect |  |
`http://www.orpha.net` | 99043 | Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis |  |
`http://www.orpha.net` | 99044 | Double outlet right ventricle with subaortic ventricular septal defect |  |
`http://www.orpha.net` | 99045 | Double outlet right ventricle with subpulmonary ventricular septal defect |  |
`http://www.orpha.net` | 95474 | Double-orifice mitral valve |  |
`http://www.orpha.net` | 90157 | Drug-induced localized lipodystrophy |  |
`http://www.orpha.net` | 97368 | Drug-related renal tubular dysgenesis |  |
`http://www.orpha.net` | 98896 | Duchenne muscular dystrophy |  |
`http://www.orpha.net` | 97339 | Dural sinus malformation |  |
`http://www.orpha.net` | 99082 | Dysphagia lusoria |  |
`http://www.orpha.net` | 98988 | Early-onset anterior polar cataract |  |
`http://www.orpha.net` | 98991 | Early-onset nuclear cataract |  |
`http://www.orpha.net` | 99704 | Early-onset obesity-hyperphagia-severe developmental delay syndrome |  |
`http://www.orpha.net` | 98993 | Early-onset posterior polar cataract |  |
`http://www.orpha.net` | 90341 | Early-onset sarcoidosis |  |
`http://www.orpha.net` | 98985 | Early-onset sutural cataract |  |
`http://www.orpha.net` | 98890 | Early-onset X-linked optic atrophy |  |
`http://www.orpha.net` | 99102 | Ectasia of the left atrial appendage |  |
`http://www.orpha.net` | 99101 | Ectasia of the right atrial appendage |  |
`http://www.orpha.net` | 97214 | Eisenmenger syndrome |  |
`http://www.orpha.net` | 96170 | Emanuel syndrome |  |
`http://www.orpha.net` | 99757 | Embryonal rhabdomyosarcoma |  |
`http://www.orpha.net` | 99075 | Encircling double aortic arch |  |
`http://www.orpha.net` | 99169 | Epiblepharon |  |
`http://www.orpha.net` | 98956 | Epithelial basement membrane dystrophy |  |
`http://www.orpha.net` | 999 | Ermine phenotype |  |
`http://www.orpha.net` | 98981 | Essential iris atrophy |  |
`http://www.orpha.net` | 99172 | Euryblepharon |  |
`http://www.orpha.net` | 95700 | Familial adrenal hypoplasia with absent pituitary luteinizing hormone |  |
`http://www.orpha.net` | 98880 | Familial afibrinogenemia |  |
`http://www.orpha.net` | 91498 | Familial congenital palsy of trochlear nerve |  |
`http://www.orpha.net` | 98881 | Familial dysfibrinogenemia |  |
`http://www.orpha.net` | 98820 | Familial focal epilepsy with variable foci |  |
`http://www.orpha.net` | 99819 | Familial gestational hyperthyroidism |  |
`http://www.orpha.net` | 93372 | Familial hypocalciuric hypercalcemia type 1 |  |
`http://www.orpha.net` | 99879 | Familial isolated hyperparathyroidism |  |
`http://www.orpha.net` | 922 | Familial nasal acilia |  |
`http://www.orpha.net` | 97290 | Familial papillary thyroid carcinoma with renal papillary neoplasia |  |
`http://www.orpha.net` | 97 | Familial paroxysmal ataxia |  |
`http://www.orpha.net` | 99810 | Familial porencephaly |  |
`http://www.orpha.net` | 98819 | Familial temporal lobe epilepsy |  |
`http://www.orpha.net` | 93953 | Familial thyroglossal duct cyst |  |
`http://www.orpha.net` | 95716 | Familial thyroid dyshormonogenesis |  |
`http://www.orpha.net` | 994 | Fetal akinesia deformation sequence |  |
`http://www.orpha.net` | 93932 | FG syndrome type 1 |  |
`http://www.orpha.net` | 97232 | Fingerprint body myopathy |  |
`http://www.orpha.net` | 98970 | Fleck corneal dystrophy |  |
`http://www.orpha.net` | 93256 | Fragile X-associated tremor/ataxia syndrome |  |
`http://www.orpha.net` | 99672 | Fried's tooth and nail syndrome |  |
`http://www.orpha.net` | 95 | Friedreich ataxia |  |
`http://www.orpha.net` | 98974 | Fuchs endothelial corneal dystrophy |  |
`http://www.orpha.net` | 93921 | Full schwannomatosis |  |
`http://www.orpha.net` | 91348 | Functioning gonadotropic adenoma |  |
`http://www.orpha.net` | 99004 | Fundus pulverulentus |  |
`http://www.orpha.net` | 97295 | Furlong syndrome |  |
`http://www.orpha.net` | 98957 | Gelatinous drop-like corneal dystrophy |  |
`http://www.orpha.net` | 99845 | Genetic recurrent myoglobinuria |  |
`http://www.orpha.net` | 93398 | Genochondromatosis type 2 |  |
`http://www.orpha.net` | 91352 | Germinoma of the central nervous system |  |
`http://www.orpha.net` | 99926 | Gestational choriocarcinoma |  |
`http://www.orpha.net` | 97280 | Glucagonoma |  |
`http://www.orpha.net` | 99849 | Glycogen storage disease due to muscle beta-enolase deficiency |  |
`http://www.orpha.net` | 97234 | Glycogen storage disease due to phosphoglycerate mutase deficiency |  |
`http://www.orpha.net` | 98962 | Granular corneal dystrophy type I |  |
`http://www.orpha.net` | 98963 | Granular corneal dystrophy type II |  |
`http://www.orpha.net` | 97261 | GRFoma |  |
`http://www.orpha.net` | 99914 | Gynandroblastoma |  |
`http://www.orpha.net` | 99803 | Haddad syndrome |  |
`http://www.orpha.net` | 93946 | Hamel cerebro-palato-cardiac syndrome |  |
`http://www.orpha.net` | 93556 | Heavy chain deposition disease |  |
`http://www.orpha.net` | 99932 | Heiner syndrome |  |
`http://www.orpha.net` | 99802 | Hemimegalencephaly |  |
`http://www.orpha.net` | 93616 | Hemoglobin H disease |  |
`http://www.orpha.net` | 99138 | Hemolytic anemia due to erythrocyte adenosine deaminase overproduction |  |
`http://www.orpha.net` | 95159 | Hepatoerythropoietic porphyria |  |
`http://www.orpha.net` | 98434 | Hereditary combined deficiency of vitamin K-dependent clotting factors |  |
`http://www.orpha.net` | 972 | Hereditary continuous muscle fiber activity |  |
`http://www.orpha.net` | 90120 | Hereditary motor and sensory neuropathy type 6 |  |
`http://www.orpha.net` | 90119 | Hereditary motor and sensory neuropathy with acrodystrophy |  |
`http://www.orpha.net` | 90117 | Hereditary motor and sensory neuropathy, Okinawa type |  |
`http://www.orpha.net` | 98867 | Hereditary pyropoikilocytosis |  |
`http://www.orpha.net` | 94088 | Hereditary renal hypouricemia |  |
`http://www.orpha.net` | 970 | Hereditary sensory and autonomic neuropathy type 2 |  |
`http://www.orpha.net` | 93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease |  |
`http://www.orpha.net` | 93970 | Holmes-Gang syndrome |  |
`http://www.orpha.net` | 98865 | Homozygous hereditary elliptocytosis |  |
`http://www.orpha.net` | 97340 | Hunter-McAlpine syndrome |  |
`http://www.orpha.net` | 98934 | Huntington disease-like 2 |  |
`http://www.orpha.net` | 93473 | Hurler syndrome |  |
`http://www.orpha.net` | 93476 | Hurler-Scheie syndrome |  |
`http://www.orpha.net` | 927 | Hyperammonemia due to N-acetylglutamate synthase deficiency |  |
`http://www.orpha.net` | 99880 | Hyperparathyroidism-jaw tumor syndrome |  |
`http://www.orpha.net` | 966 | Hypertrichosis-acromegaloid facial appearance syndrome |  |
`http://www.orpha.net` | 90282 | Hypertrophic or verrucous lupus erythematosus |  |
`http://www.orpha.net` | 93160 | Hypocalcemic vitamin D-resistant rickets |  |
`http://www.orpha.net` | 93297 | Hypochondrogenesis |  |
`http://www.orpha.net` | 989 | Hypoglossia-hypodactyly syndrome |  |
`http://www.orpha.net` | 99058 | Hypoplasia of the mitral valve annulus |  |
`http://www.orpha.net` | 90673 | Hypothyroidism due to TSH receptor mutations |  |
`http://www.orpha.net` | 90368 | Hypotrichosis simplex of the scalp |  |
`http://www.orpha.net` | 91132 | Ichthyosis-hypotrichosis syndrome |  |
`http://www.orpha.net` | 930 | Idiopathic achalasia |  |
`http://www.orpha.net` | 95717 | Idiopathic congenital hypothyroidism |  |
`http://www.orpha.net` | 95707 | Idiopathic isolated micropenis |  |
`http://www.orpha.net` | 90158 | Idiopathic localized lipodystrophy |  |
`http://www.orpha.net` | 99931 | Idiopathic pulmonary hemosiderosis |  |
`http://www.orpha.net` | 99858 | Idiopathic syringomyelia |  |
`http://www.orpha.net` | 93585 | Immune-mediated thrombotic thrombocytopenic purpura |  |
`http://www.orpha.net` | 97567 | Immunotactoid glomerulopathy |  |
`http://www.orpha.net` | 91137 | Immunotactoid or fibrillary glomerulopathy |  |
`http://www.orpha.net` | 98848 | Indolent systemic mastocytosis |  |
`http://www.orpha.net` | 93591 | Infantile nephronophthisis |  |
`http://www.orpha.net` | 99123 | Inferior vena cava interruption without azygos continuation |  |
`http://www.orpha.net` | 97279 | Insulinoma |  |
`http://www.orpha.net` | 99989 | Intermediate DEND syndrome |  |
`http://www.orpha.net` | 981 | Internal carotid absence |  |
`http://www.orpha.net` | 99092 | Interventricular septum aneurysm |  |
`http://www.orpha.net` | 98839 | Intravascular large B-cell lymphoma |  |
`http://www.orpha.net` | 99925 | Invasive mole |  |
`http://www.orpha.net` | 98951 | Inverse Marcus-Gunn phenomenon |  |
`http://www.orpha.net` | 96325 | Isochromosome Y syndrome |  |
`http://www.orpha.net` | 98797 | Isochromosomy Yp syndrome |  |
`http://www.orpha.net` | 98798 | Isochromosomy Yq syndrome |  |
`http://www.orpha.net` | 973 | Isolated absence/hypoplasia of fingers excluding thumb, unilateral |  |
`http://www.orpha.net` | 931 | Isolated acheiropodia |  |
`http://www.orpha.net` | 91397 | Isolated ankyloblepharon filiforme adnatum |  |
`http://www.orpha.net` | 91416 | Isolated congenital alacrima |  |
`http://www.orpha.net` | 99171 | Isolated congenital ectropion |  |
`http://www.orpha.net` | 91489 | Isolated congenital megalocornea |  |
`http://www.orpha.net` | 91490 | Isolated congenital sclerocornea |  |
`http://www.orpha.net` | 91396 | Isolated cryptophthalmia |  |
`http://www.orpha.net` | 99177 | Isolated distichiasis |  |
`http://www.orpha.net` | 93928 | Isolated epispadias |  |
`http://www.orpha.net` | 99361 | Isolated familial medullary thyroid carcinoma |  |
`http://www.orpha.net` | 96269 | Isolated partial vaginal agenesis |  |
`http://www.orpha.net` | 99885 | Isolated permanent neonatal diabetes mellitus |  |
`http://www.orpha.net` | 99731 | Isolated sulfite oxidase deficiency |  |
`http://www.orpha.net` | 90674 | Isolated thyroid-stimulating hormone deficiency |  |
`http://www.orpha.net` | 90647 | Jervell and Lange-Nielsen syndrome |  |
`http://www.orpha.net` | 93972 | Juberg-Marsidi syndrome |  |
`http://www.orpha.net` | 93672 | Juvenile dermatomyositis |  |
`http://www.orpha.net` | 98977 | Juvenile glaucoma |  |
`http://www.orpha.net` | 93592 | Juvenile nephronophthisis |  |
`http://www.orpha.net` | 93568 | Juvenile polymyositis |  |
`http://www.orpha.net` | 93399 | Juvenile sialidosis type 2 |  |
`http://www.orpha.net` | 99100 | Juxtaposition of the atrial appendages |  |
`http://www.orpha.net` | 96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 |  |
`http://www.orpha.net` | 99179 | Kandori fleck retina |  |
`http://www.orpha.net` | 97332 | Kienbock disease |  |
`http://www.orpha.net` | 99741 | King-Denborough syndrome |  |
`http://www.orpha.net` | 96147 | Kleefstra syndrome due to 9q34 microdeletion |  |
`http://www.orpha.net` | 99077 | Kommerell diverticulum |  |
`http://www.orpha.net` | 99749 | Kostmann syndrome |  |
`http://www.orpha.net` | 98818 | Landau-Kleffner syndrome |  |
`http://www.orpha.net` | 93938 | Laryngotracheoesophageal cleft type 1 |  |
`http://www.orpha.net` | 93939 | Laryngotracheoesophageal cleft type 2 |  |
`http://www.orpha.net` | 93940 | Laryngotracheoesophageal cleft type 3 |  |
`http://www.orpha.net` | 93941 | Laryngotracheoesophageal cleft type 4 |  |
`http://www.orpha.net` | 99824 | Lassa fever |  |
`http://www.orpha.net` | 98912 | Late-onset distal myopathy, Markesbery-Griggs type |  |
`http://www.orpha.net` | 93589 | Late-onset nephronophthisis |  |
`http://www.orpha.net` | 98964 | Lattice corneal dystrophy type I |  |
`http://www.orpha.net` | 99094 | Laubry-Pezzi syndrome |  |
`http://www.orpha.net` | 99718 | Leber plus disease |  |
`http://www.orpha.net` | 99842 | Leukocyte adhesion deficiency type I |  |
`http://www.orpha.net` | 99843 | Leukocyte adhesion deficiency type II |  |
`http://www.orpha.net` | 99844 | Leukocyte adhesion deficiency type III |  |
`http://www.orpha.net` | 95854 | Levocardia |  |
`http://www.orpha.net` | 96265 | Leydig cell hypoplasia due to complete LH resistance |  |
`http://www.orpha.net` | 96266 | Leydig cell hypoplasia due to partial LH resistance |  |
`http://www.orpha.net` | 99812 | LIG4 syndrome |  |
`http://www.orpha.net` | 93557 | Light and heavy chain deposition disease |  |
`http://www.orpha.net` | 93558 | Light chain deposition disease |  |
`http://www.orpha.net` | 97231 | Ligneous conjunctivitis |  |
`http://www.orpha.net` | 98955 | Lisch epithelial corneal dystrophy |  |
`http://www.orpha.net` | 95232 | Lissencephaly due to LIS1 mutation |  |
`http://www.orpha.net` | 93924 | Lobar holoprosencephaly |  |
`http://www.orpha.net` | 90398 | Localized lichen myxedematosus with mixed features of different subtypes |  |
`http://www.orpha.net` | 90399 | Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms |  |
`http://www.orpha.net` | 90289 | Localized scleroderma |  |
`http://www.orpha.net` | 99900 | Long chain acyl-CoA dehydrogenase deficiency |  |
`http://www.orpha.net` | 90285 | Lupus erythematosus panniculitis |  |
`http://www.orpha.net` | 90283 | Lupus erythematosus tumidus |  |
`http://www.orpha.net` | 91546 | Lyme disease |  |
`http://www.orpha.net` | 99141 | Lymphedema-posterior choanal atresia syndrome |  |
`http://www.orpha.net` | 98842 | Lymphomatoid papulosis |  |
`http://www.orpha.net` | 98291 | Lymphoproliferative disease associated with primary immune disease |  |
`http://www.orpha.net` | 91494 | Macular coloboma-cleft palate-hallux valgus syndrome |  |
`http://www.orpha.net` | 98969 | Macular corneal dystrophy |  |
`http://www.orpha.net` | 99915 | Malignant granulosa cell tumor of the ovary |  |
`http://www.orpha.net` | 99916 | Malignant Sertoli-Leydig cell tumor of the ovary |  |
`http://www.orpha.net` | 943 | Malonic aciduria |  |
`http://www.orpha.net` | 99090 | Malposition of a coronary ostium |  |
`http://www.orpha.net` | 90153 | Mandibuloacral dysplasia with type A lipodystrophy |  |
`http://www.orpha.net` | 90154 | Mandibuloacral dysplasia with type B lipodystrophy |  |
`http://www.orpha.net` | 99826 | Marburg hemorrhagic fever |  |
`http://www.orpha.net` | 90338 | Margarita island ectodermal dysplasia |  |
`http://www.orpha.net` | 99715 | MASS syndrome |  |
`http://www.orpha.net` | 97678 | Maternal uniparental disomy of chromosome 13 syndrome |  |
`http://www.orpha.net` | 96185 | Maternal uniparental disomy of chromosome 16 syndrome |  |
`http://www.orpha.net` | 96179 | Maternal uniparental disomy of chromosome 2 syndrome |  |
`http://www.orpha.net` | 96186 | Maternal uniparental disomy of chromosome 20 syndrome |  |
`http://www.orpha.net` | 96187 | Maternal uniparental disomy of chromosome 21 syndrome |  |
`http://www.orpha.net` | 96188 | Maternal uniparental disomy of chromosome 22 syndrome |  |
`http://www.orpha.net` | 96180 | Maternal uniparental disomy of chromosome 4 syndrome |  |
`http://www.orpha.net` | 96181 | Maternal uniparental disomy of chromosome 6 syndrome |  |
`http://www.orpha.net` | 96183 | Maternal uniparental disomy of chromosome 9 syndrome |  |
`http://www.orpha.net` | 98954 | Meesmann corneal dystrophy |  |
`http://www.orpha.net` | 97252 | Mega-cisterna magna |  |
`http://www.orpha.net` | 97338 | Melanoma of soft tissue |  |
`http://www.orpha.net` | 99898 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency |  |
`http://www.orpha.net` | 99701 | Mesial temporal lobe epilepsy with hippocampal sclerosis |  |
`http://www.orpha.net` | 95443 | Mesocardia |  |
`http://www.orpha.net` | 99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria |  |
`http://www.orpha.net` | 99142 | Microcephaly-cutis verticis gyrata-lymphedema syndrome |  |
`http://www.orpha.net` | 93926 | Midline interhemispheric variant of holoprosencephaly |  |
`http://www.orpha.net` | 93279 | Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis |  |
`http://www.orpha.net` | 98919 | Miller Fisher syndrome |  |
`http://www.orpha.net` | 94091 | Mills syndrome |  |
`http://www.orpha.net` | 99062 | Mitral valve agenesis |  |
`http://www.orpha.net` | 93554 | Mixed cryoglobulinemia type II |  |
`http://www.orpha.net` | 93555 | Mixed cryoglobulinemia type III |  |
`http://www.orpha.net` | 96168 | Monosomy 13q34 syndrome |  |
`http://www.orpha.net` | 96123 | Monosomy 22 syndrome |  |
`http://www.orpha.net` | 99226 | Monosomy X syndrome |  |
`http://www.orpha.net` | 93277 | Monostotic fibrous dysplasia |  |
`http://www.orpha.net` | 99228 | Mosaic monosomy X syndrome |  |
`http://www.orpha.net` | 96063 | Mosaic trisomy 10 syndrome |  |
`http://www.orpha.net` | 96068 | Mosaic trisomy 22 syndrome |  |
`http://www.orpha.net` | 96059 | Mosaic trisomy 4 syndrome |  |
`http://www.orpha.net` | 96060 | Mosaic trisomy 5 syndrome |  |
`http://www.orpha.net` | 96061 | Mosaic trisomy 8 syndrome |  |
`http://www.orpha.net` | 99776 | Mosaic trisomy 9 syndrome |  |
`http://www.orpha.net` | 99003 | Multifocal pattern dystrophy simulating fundus flavimaculatus |  |
`http://www.orpha.net` | 97366 | Multiloculated renal cyst |  |
`http://www.orpha.net` | 93308 | Multiple epiphyseal dysplasia type 1 |  |
`http://www.orpha.net` | 93307 | Multiple epiphyseal dysplasia type 4 |  |
`http://www.orpha.net` | 93311 | Multiple epiphyseal dysplasia type 5 |  |
`http://www.orpha.net` | 98933 | Multiple system atrophy, parkinsonian type |  |
`http://www.orpha.net` | 98826 | Myelodysplastic neoplasm with low blasts |  |
`http://www.orpha.net` | 99734 | Myotonia fluctuans |  |
`http://www.orpha.net` | 99735 | Myotonia permanens |  |
`http://www.orpha.net` | 99967 | Myxoid/round cell liposarcoma |  |
`http://www.orpha.net` | 94058 | Neovascular glaucoma |  |
`http://www.orpha.net` | 93606 | Nephrogenic syndrome of inappropriate antidiuresis |  |
`http://www.orpha.net` | 99078 | Neuhauser anomaly |  |
`http://www.orpha.net` | 94093 | Neuroleptic malignant syndrome |  |
`http://www.orpha.net` | 98748 | Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect |  |
`http://www.orpha.net` | 99811 | Neuronal intestinal pseudoobstruction |  |
`http://www.orpha.net` | 98907 | Neutral lipid storage disease with ichthyosis |  |
`http://www.orpha.net` | 98908 | Neutral lipid storage disease with myopathy |  |
`http://www.orpha.net` | 99825 | Nipah virus disease |  |
`http://www.orpha.net` | 90393 | Nodular lichen myxedematosus |  |
`http://www.orpha.net` | 90695 | Non-acquired panhypopituitarism |  |
`http://www.orpha.net` | 97566 | Non-amyloid fibrillary glomerulopathy |  |
`http://www.orpha.net` | 96160 | Non-distal deletion 12q syndrome |  |
`http://www.orpha.net` | 96112 | Non-distal duplication 9q syndrome |  |
`http://www.orpha.net` | 90185 | Non-hereditary late-onset primary lymphedema |  |
`http://www.orpha.net` | 99817 | Non-polyposis Turcot syndrome |  |
`http://www.orpha.net` | 91364 | Non-specific interstitial pneumonia |  |
`http://www.orpha.net` | 99965 | O'Sullivan-McLeod syndrome |  |
`http://www.orpha.net` | 953 | OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type |  |
`http://www.orpha.net` | 93668 | OBSOLETE: Adult chronic recurrent multifocal osteomyelitis |  |
`http://www.orpha.net` | 99874 | OBSOLETE: Adult pulmonary Langerhans cell histiocytosis |  |
`http://www.orpha.net` | 95484 | OBSOLETE: Aneurysm or dilatation of ascending aorta |  |
`http://www.orpha.net` | 99987 | OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome |  |
`http://www.orpha.net` | 93604 | OBSOLETE: Antenatal Bartter syndrome |  |
`http://www.orpha.net` | 98730 | OBSOLETE: Atrioventricular discordance |  |
`http://www.orpha.net` | 93578 | OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly |  |
`http://www.orpha.net` | 93575 | OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly |  |
`http://www.orpha.net` | 93579 | OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly |  |
`http://www.orpha.net` | 93580 | OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly |  |
`http://www.orpha.net` | 93576 | OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly |  |
`http://www.orpha.net` | 99012 | OBSOLETE: Autosomal recessive optic atrophy, OPA6 type |  |
`http://www.orpha.net` | 98987 | OBSOLETE: Cataract, Hutterite type |  |
`http://www.orpha.net` | 98125 | OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect |  |
`http://www.orpha.net` | 98122 | OBSOLETE: Channelopathy due to a neuronal glycine receptor defect |  |
`http://www.orpha.net` | 98123 | OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect |  |
`http://www.orpha.net` | 98124 | OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect |  |
`http://www.orpha.net` | 93365 | OBSOLETE: CINCA syndrome with NLRP3 mutations |  |
`http://www.orpha.net` | 93367 | OBSOLETE: CINCA syndrome without NLRP3 mutations |  |
`http://www.orpha.net` | 99864 | OBSOLETE: Classic seminoma |  |
`http://www.orpha.net` | 99066 | OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome |  |
`http://www.orpha.net` | 98983 | OBSOLETE: Congenital cataract, Volkmann type |  |
`http://www.orpha.net` | 95501 | OBSOLETE: Congenital central diabetes insipidus |  |
`http://www.orpha.net` | 98986 | OBSOLETE: Coppock-like cataract |  |
`http://www.orpha.net` | 98667 | OBSOLETE: Disease predisposing to age-related macular degeneration |  |
`http://www.orpha.net` | 96152 | OBSOLETE: Distal monosomy 20q |  |
`http://www.orpha.net` | 96369 | OBSOLETE: Early-onset schizophrenia |  |
`http://www.orpha.net` | 90309 | OBSOLETE: Ehlers-Danlos syndrome type 1 |  |
`http://www.orpha.net` | 90318 | OBSOLETE: Ehlers-Danlos syndrome type 2 |  |
`http://www.orpha.net` | 99875 | OBSOLETE: Ehlers-Danlos syndrome type 7A |  |
`http://www.orpha.net` | 99876 | OBSOLETE: Ehlers-Danlos syndrome type 7B |  |
`http://www.orpha.net` | 99871 | OBSOLETE: Eosinophilic granuloma |  |
`http://www.orpha.net` | 99781 | OBSOLETE: Familial articular chondrocalcinosis type 1 |  |
`http://www.orpha.net` | 99782 | OBSOLETE: Familial articular chondrocalcinosis type 2 |  |
`http://www.orpha.net` | 99723 | OBSOLETE: Familial esophageal achalasia |  |
`http://www.orpha.net` | 99763 | OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 |  |
`http://www.orpha.net` | 99764 | OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2 |  |
`http://www.orpha.net` | 93214 | OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation |  |
`http://www.orpha.net` | 93217 | OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis |  |
`http://www.orpha.net` | 93213 | OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis |  |
`http://www.orpha.net` | 93216 | OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes |  |
`http://www.orpha.net` | 99877 | OBSOLETE: Familial parathyroid adenoma |  |
`http://www.orpha.net` | 99985 | OBSOLETE: Familial restrictive cardiomyopathy type 1 |  |
`http://www.orpha.net` | 99986 | OBSOLETE: Familial restrictive cardiomyopathy type 2 |  |
`http://www.orpha.net` | 99906 | OBSOLETE: Farmer's lung disease |  |
`http://www.orpha.net` | 99654 | OBSOLETE: Fibrocalculous pancreatopathy |  |
`http://www.orpha.net` | 99649 | OBSOLETE: Generalized epilepsy and praxis-induced seizures |  |
`http://www.orpha.net` | 91128 | OBSOLETE: Graft rejection after lung transplantation |  |
`http://www.orpha.net` | 99873 | OBSOLETE: Hand-Schüller-Christian disease |  |
`http://www.orpha.net` | 99872 | OBSOLETE: Hashimoto-Pritzker syndrome |  |
`http://www.orpha.net` | 99907 | OBSOLETE: House allergic alveolitis |  |
`http://www.orpha.net` | 93209 | OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation |  |
`http://www.orpha.net` | 93206 | OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis |  |
`http://www.orpha.net` | 93207 | OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change |  |
`http://www.orpha.net` | 99870 | OBSOLETE: Letterer-Siwe disease |  |
`http://www.orpha.net` | 98311 | OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia |  |
`http://www.orpha.net` | 99866 | OBSOLETE: Metastatic spermatocytic seminoma |  |
`http://www.orpha.net` | 93427 | OBSOLETE: Metatropic dysplasias |  |
`http://www.orpha.net` | 93686 | OBSOLETE: Multicentric Castleman disease |  |
`http://www.orpha.net` | 97668 | OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency |  |
`http://www.orpha.net` | 99022 | OBSOLETE: Niemann-Pick disease type E |  |
`http://www.orpha.net` | 96164 | OBSOLETE: Non-distal monosomy 20q |  |
`http://www.orpha.net` | 93688 | OBSOLETE: Non-idiopathic juvenile arthritis |  |
`http://www.orpha.net` | 98120 | OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly |  |
`http://www.orpha.net` | 98115 | OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly |  |
`http://www.orpha.net` | 98119 | OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly |  |
`http://www.orpha.net` | 98117 | OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly |  |
`http://www.orpha.net` | 98114 | OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly |  |
`http://www.orpha.net` | 98113 | OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly |  |
`http://www.orpha.net` | 99909 | OBSOLETE: Occupational allergic alveolitis |  |
`http://www.orpha.net` | 98704 | OBSOLETE: Onycho-patellar syndrome with eye involvement |  |
`http://www.orpha.net` | 91133 | OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome |  |
`http://www.orpha.net` | 93178 | OBSOLETE: Partial prune belly syndrome |  |
`http://www.orpha.net` | 93682 | OBSOLETE: Pediatric Castleman disease |  |
`http://www.orpha.net` | 93564 | OBSOLETE: Pediatric polyarteritis nodosa |  |
`http://www.orpha.net` | 93566 | OBSOLETE: Pediatric Sjögren syndrome |  |
`http://www.orpha.net` | 93567 | OBSOLETE: Pediatric systemic sclerosis |  |
`http://www.orpha.net` | 97927 | OBSOLETE: Peripheral resistance to thyroid hormones |  |
`http://www.orpha.net` | 99908 | OBSOLETE: Pigeon-breeder lung disease |  |
`http://www.orpha.net` | 95621 | OBSOLETE: Postsurgical hypopituitarism |  |
`http://www.orpha.net` | 95625 | OBSOLETE: Posttraumatic diabetes insipidus |  |
`http://www.orpha.net` | 95623 | OBSOLETE: Posttraumatic hypopituitarism |  |
`http://www.orpha.net` | 99859 | OBSOLETE: Posttraumatic syringomyelia |  |
`http://www.orpha.net` | 99878 | OBSOLETE: Primary parathyroid hyperplasia |  |
`http://www.orpha.net` | 93975 | OBSOLETE: Renier-Gabreels-Jasper syndrome |  |
`http://www.orpha.net` | 91365 | OBSOLETE: Secondary ciliary dyskinesia |  |
`http://www.orpha.net` | 98932 | OBSOLETE: Shy-Drager syndrome |  |
`http://www.orpha.net` | 98866 | OBSOLETE: Spherocytic elliptocytosis |  |
`http://www.orpha.net` | 93359 | OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity |  |
`http://www.orpha.net` | 99722 | OBSOLETE: Sporadic achalasia |  |
`http://www.orpha.net` | 97555 | OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy |  |
`http://www.orpha.net` | 93222 | OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation |  |
`http://www.orpha.net` | 93220 | OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis |  |
`http://www.orpha.net` | 93218 | OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis |  |
`http://www.orpha.net` | 93221 | OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes |  |
`http://www.orpha.net` | 99664 | OBSOLETE: Trochlear nerve palsy |  |
`http://www.orpha.net` | 99069 | OBSOLETE: Univentricular heart with single atrio-ventricular valve |  |
`http://www.orpha.net` | 99663 | OBSOLETE: Vestibular torticollis |  |
`http://www.orpha.net` | 98941 | OBSOLETE: Von Hippel anomaly |  |
`http://www.orpha.net` | 99922 | Ocular cicatricial pemphigoid |  |
`http://www.orpha.net` | 99806 | Oculootodental syndrome |  |
`http://www.orpha.net` | 98897 | Oculopharyngodistal myopathy |  |
`http://www.orpha.net` | 99798 | Oligodontia |  |
`http://www.orpha.net` | 90649 | Orofaciodigital syndrome type 7 |  |
`http://www.orpha.net` | 93958 | Oromandibular dystonia |  |
`http://www.orpha.net` | 97335 | Osgood-Schlatter disease |  |
`http://www.orpha.net` | 90650 | Otopalatodigital syndrome type 1 |  |
`http://www.orpha.net` | 90652 | Otopalatodigital syndrome type 2 |  |
`http://www.orpha.net` | 99912 | Ovarian dysgerminoma |  |
`http://www.orpha.net` | 99853 | Ovarioleukodystrophy |  |
`http://www.orpha.net` | 991 | PAGOD syndrome |  |
`http://www.orpha.net` | 95513 | Panhypophysitis |  |
`http://www.orpha.net` | 97336 | Panner disease |  |
`http://www.orpha.net` | 90159 | Panniculitis-induced localized lipodystrophy |  |
`http://www.orpha.net` | 90395 | Papular mucinosis of infancy |  |
`http://www.orpha.net` | 99056 | Parachute tricuspid valve |  |
`http://www.orpha.net` | 90307 | Parkes Weber syndrome |  |
`http://www.orpha.net` | 98811 | Paroxysmal exertion-induced dyskinesia |  |
`http://www.orpha.net` | 98812 | Paroxysmal hypnogenic dyskinesia |  |
`http://www.orpha.net` | 98809 | Paroxysmal kinesigenic dyskinesia |  |
`http://www.orpha.net` | 98810 | Paroxysmal non-kinesigenic dyskinesia |  |
`http://www.orpha.net` | 90797 | Partial androgen insensitivity syndrome |  |
`http://www.orpha.net` | 98950 | Partial cryptophthalmia |  |
`http://www.orpha.net` | 94083 | Partington syndrome |  |
`http://www.orpha.net` | 99324 | Paternal uniparental disomy of chromosome 13 syndrome |  |
`http://www.orpha.net` | 96194 | Paternal uniparental disomy of chromosome 20 syndrome |  |
`http://www.orpha.net` | 96195 | Paternal uniparental disomy of chromosome 21 syndrome |  |
`http://www.orpha.net` | 96190 | Paternal uniparental disomy of chromosome 5 syndrome |  |
`http://www.orpha.net` | 96191 | Paternal uniparental disomy of chromosome 6 syndrome |  |
`http://www.orpha.net` | 96192 | Paternal uniparental disomy of chromosome 7 syndrome |  |
`http://www.orpha.net` | 93126 | Pauci-immune glomerulonephritis |  |
`http://www.orpha.net` | 97563 | Pauci-immune glomerulonephritis with ANCA |  |
`http://www.orpha.net` | 97564 | Pauci-immune glomerulonephritis without ANCA |  |
`http://www.orpha.net` | 93552 | Pediatric systemic lupus erythematosus |  |
`http://www.orpha.net` | 99807 | PEHO-like syndrome |  |
`http://www.orpha.net` | 97352 | Pellagra |  |
`http://www.orpha.net` | 93333 | Pelviscapular dysplasia |  |
`http://www.orpha.net` | 99978 | Perihilar cholangiocarcinoma |  |
`http://www.orpha.net` | 99084 | Peripheral pulmonary stenosis |  |
`http://www.orpha.net` | 98892 | Periventricular nodular heterotopia |  |
`http://www.orpha.net` | 99120 | Persistent eustachian valve |  |
`http://www.orpha.net` | 99076 | Persistent fifth aortic arch |  |
`http://www.orpha.net` | 99109 | Persistent left superior vena cava connecting through coronary sinus to left-sided atrium |  |
`http://www.orpha.net` | 99111 | Persistent left superior vena cava connecting to the roof of left-sided atrium |  |
`http://www.orpha.net` | 97341 | Persistent placoid maculopathy |  |
`http://www.orpha.net` | 93258 | Pfeiffer syndrome type 1 |  |
`http://www.orpha.net` | 93259 | Pfeiffer syndrome type 2 |  |
`http://www.orpha.net` | 93260 | Pfeiffer syndrome type 3 |  |
`http://www.orpha.net` | 91414 | Pilomatrixoma |  |
`http://www.orpha.net` | 98788 | Pitt-Rogers-Danks syndrome |  |
`http://www.orpha.net` | 95613 | Pituitary apoplexy |  |
`http://www.orpha.net` | 91354 | Pituitary deficiency due to empty sella turcica syndrome |  |
`http://www.orpha.net` | 91350 | Pituitary deficiency due to Rathke cleft cysts |  |
`http://www.orpha.net` | 91351 | Pituitary dermoid and epidermoid cysts |  |
`http://www.orpha.net` | 99725 | Pituitary gigantism |  |
`http://www.orpha.net` | 95611 | Pituitary hormone deficiency of vascular origin |  |
`http://www.orpha.net` | 95496 | Pituitary stalk interruption syndrome |  |
`http://www.orpha.net` | 99928 | Placental site trophoblastic tumor |  |
`http://www.orpha.net` | 99969 | Pleomorphic liposarcoma |  |
`http://www.orpha.net` | 99131 | Pleuro-pericardial cyst |  |
`http://www.orpha.net` | 99933 | Pleuropulmonary blastoma type 1 |  |
`http://www.orpha.net` | 99934 | Pleuropulmonary blastoma type 2 |  |
`http://www.orpha.net` | 99935 | Pleuropulmonary blastoma type 3 |  |
`http://www.orpha.net` | 93276 | Polyostotic fibrous dysplasia |  |
`http://www.orpha.net` | 99748 | Pontiac fever |  |
`http://www.orpha.net` | 97249 | Pontocerebellar hypoplasia type 3 |  |
`http://www.orpha.net` | 95619 | Post-traumatic pituitary deficiency |  |
`http://www.orpha.net` | 97349 | Postencephalitic parkinsonism |  |
`http://www.orpha.net` | 98971 | Posterior amorphous corneal dystrophy |  |
`http://www.orpha.net` | 98973 | Posterior polymorphous corneal dystrophy |  |
`http://www.orpha.net` | 93110 | Posterior urethral valve |  |
`http://www.orpha.net` | 98913 | Postsynaptic congenital myasthenic syndromes |  |
`http://www.orpha.net` | 97278 | PPoma |  |
`http://www.orpha.net` | 98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 |  |
`http://www.orpha.net` | 99861 | Precursor T-cell acute lymphoblastic leukemia |  |
`http://www.orpha.net` | 95486 | Premature closure of the arterial duct |  |
`http://www.orpha.net` | 90160 | Pressure-induced localized lipoatrophy |  |
`http://www.orpha.net` | 98914 | Presynaptic congenital myasthenic syndromes |  |
`http://www.orpha.net` | 98872 | Primary acquired pure red cell aplasia |  |
`http://www.orpha.net` | 98421 | Primary acquired red cell aplasia |  |
`http://www.orpha.net` | 98861 | Primary ciliary dyskinesia, Kartagener type |  |
`http://www.orpha.net` | 95714 | Primary congenital hypothyroidism without thyroid developmental anomaly |  |
`http://www.orpha.net` | 98807 | Primary dystonia, DYT13 type |  |
`http://www.orpha.net` | 99657 | Primary dystonia, DYT2 type |  |
`http://www.orpha.net` | 98805 | Primary dystonia, DYT4 type |  |
`http://www.orpha.net` | 98806 | Primary dystonia, DYT6 type |  |
`http://www.orpha.net` | 93598 | Primary hyperoxaluria type 1 |  |
`http://www.orpha.net` | 93599 | Primary hyperoxaluria type 2 |  |
`http://www.orpha.net` | 93600 | Primary hyperoxaluria type 3 |  |
`http://www.orpha.net` | 90362 | Primary intestinal lymphangiectasia |  |
`http://www.orpha.net` | 98838 | Primary mediastinal large B-cell lymphoma |  |
`http://www.orpha.net` | 97560 | Primary membranous glomerulonephritis |  |
`http://www.orpha.net` | 94089 | Pseudohypoparathyroidism type 1B |  |
`http://www.orpha.net` | 94090 | Pseudohypoparathyroidism type 2 |  |
`http://www.orpha.net` | 984 | Pulmonary agenesis |  |
`http://www.orpha.net` | 99049 | Pulmonary artery coming from patent ductus arteriosus |  |
`http://www.orpha.net` | 99083 | Pulmonary artery hypoplasia |  |
`http://www.orpha.net` | 99048 | Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome |  |
`http://www.orpha.net` | 98984 | Pulverulent cataract |  |
`http://www.orpha.net` | 99710 | Punctate acrokeratoderma freckle-like pigmentation |  |
`http://www.orpha.net` | 90635 | Rare autosomal dominant non-syndromic sensorineural deafness type DFNA |  |
`http://www.orpha.net` | 90636 | Rare autosomal recessive non-syndromic sensorineural deafness type DFNB |  |
`http://www.orpha.net` | 98619 | Rare isolated myopia |  |
`http://www.orpha.net` | 90641 | Rare mitochondrial non-syndromic sensorineural deafness |  |
`http://www.orpha.net` | 90625 | Rare X-linked non-syndromic sensorineural deafness type DFN |  |
`http://www.orpha.net` | 99852 | Ravine syndrome |  |
`http://www.orpha.net` | 94125 | Recessive mitochondrial ataxia syndrome |  |
`http://www.orpha.net` | 96167 | Recombinant 8 syndrome |  |
`http://www.orpha.net` | 97239 | Reducing body myopathy |  |
`http://www.orpha.net` | 98961 | Reis-Bücklers corneal dystrophy |  |
`http://www.orpha.net` | 99991 | Relapsing epidemic typhus |  |
`http://www.orpha.net` | 91547 | Relapsing fever |  |
`http://www.orpha.net` | 93100 | Renal agenesis, unilateral |  |
`http://www.orpha.net` | 93108 | Renal dysplasia |  |
`http://www.orpha.net` | 93173 | Renal dysplasia, bilateral |  |
`http://www.orpha.net` | 93172 | Renal dysplasia, unilateral |  |
`http://www.orpha.net` | 93101 | Renal hypoplasia |  |
`http://www.orpha.net` | 97362 | Renal hypoplasia, bilateral |  |
`http://www.orpha.net` | 97361 | Renal hypoplasia, unilateral |  |
`http://www.orpha.net` | 97367 | Renal tubular dysgenesis due to twin-twin transfusion |  |
`http://www.orpha.net` | 97369 | Renal tubular dysgenesis of genetic origin |  |
`http://www.orpha.net` | 99832 | Resistance to thyrotropin-releasing hormone syndrome |  |
`http://www.orpha.net` | 99002 | Reticular dystrophy of the retinal pigment epithelium |  |
`http://www.orpha.net` | 91483 | Rieger anomaly |  |
`http://www.orpha.net` | 99081 | Right aortic arch |  |
`http://www.orpha.net` | 99119 | Right inferior vena cava connecting to left-sided atrium |  |
`http://www.orpha.net` | 97548 | Right sided atrial isomerism |  |
`http://www.orpha.net` | 99110 | Right superior vena cava connecting to left-sided atrium |  |
`http://www.orpha.net` | 97244 | Rigid spine syndrome |  |
`http://www.orpha.net` | 96175 | Ring chromosome 11 syndrome |  |
`http://www.orpha.net` | 96176 | Ring chromosome 13 syndrome |  |
`http://www.orpha.net` | 96177 | Ring chromosome 15 syndrome |  |
`http://www.orpha.net` | 96178 | Ring chromosome 16 syndrome |  |
`http://www.orpha.net` | 96171 | Ring chromosome 2 syndrome |  |
`http://www.orpha.net` | 96172 | Ring chromosome 3 syndrome |  |
`http://www.orpha.net` | 96173 | Ring chromosome 9 syndrome |  |
`http://www.orpha.net` | 91481 | Ring dermoid of cornea |  |
`http://www.orpha.net` | 93474 | Scheie syndrome |  |
`http://www.orpha.net` | 98967 | Schnyder corneal dystrophy |  |
`http://www.orpha.net` | 90400 | Scleromyxedema without monoclonal gammopathy |  |
`http://www.orpha.net` | 90363 | Secondary intestinal lymphangiectasia |  |
`http://www.orpha.net` | 99930 | Secondary pulmonary hemosiderosis |  |
`http://www.orpha.net` | 95427 | Secondary short bowel syndrome |  |
`http://www.orpha.net` | 99857 | Secondary syringomyelia |  |
`http://www.orpha.net` | 90397 | Self-healing papular mucinosis |  |
`http://www.orpha.net` | 98815 | Self-limited epilepsy with autonomic seizures |  |
`http://www.orpha.net` | 90118 | Severe early-onset axonal neuropathy due to MFN2 deficiency |  |
`http://www.orpha.net` | 94066 | Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia |  |
`http://www.orpha.net` | 91355 | Sheehan syndrome |  |
`http://www.orpha.net` | 99063 | Shone complex |  |
`http://www.orpha.net` | 93268 | Short rib-polydactyly syndrome, Beemer-Langer type |  |
`http://www.orpha.net` | 93269 | Short rib-polydactyly syndrome, Majewski type |  |
`http://www.orpha.net` | 93270 | Short rib-polydactyly syndrome, Saldino-Noonan type |  |
`http://www.orpha.net` | 93271 | Short rib-polydactyly syndrome, Verma-Naumoff type |  |
`http://www.orpha.net` | 935 | Short-limb skeletal dysplasia with severe combined immunodeficiency |  |
`http://www.orpha.net` | 96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 |  |
`http://www.orpha.net` | 91139 | Simple cryoglobulinemia |  |
`http://www.orpha.net` | 97337 | Sinding-Larsen-Johansson disease |  |
`http://www.orpha.net` | 98784 | Sleep-related hypermotor epilepsy |  |
`http://www.orpha.net` | 93974 | Smith-Fineman-Myers syndrome |  |
`http://www.orpha.net` | 91496 | Snowflake vitreoretinal degeneration |  |
`http://www.orpha.net` | 97230 | Solar urticaria |  |
`http://www.orpha.net` | 97283 | Somatostatinoma |  |
`http://www.orpha.net` | 96256 | Somatotropic adenoma |  |
`http://www.orpha.net` | 98868 | Southeast Asian ovalocytosis |  |
`http://www.orpha.net` | 99015 | Spastic paraplegia type 2 |  |
`http://www.orpha.net` | 99013 | Spastic paraplegia type 7 |  |
`http://www.orpha.net` | 99865 | Spermatocytic seminoma |  |
`http://www.orpha.net` | 98920 | Spinal muscular atrophy with respiratory distress type 1 |  |
`http://www.orpha.net` | 98755 | Spinocerebellar ataxia type 1 |  |
`http://www.orpha.net` | 98761 | Spinocerebellar ataxia type 10 |  |
`http://www.orpha.net` | 98767 | Spinocerebellar ataxia type 11 |  |
`http://www.orpha.net` | 98762 | Spinocerebellar ataxia type 12 |  |
`http://www.orpha.net` | 98768 | Spinocerebellar ataxia type 13 |  |
`http://www.orpha.net` | 98763 | Spinocerebellar ataxia type 14 |  |
`http://www.orpha.net` | 98769 | Spinocerebellar ataxia type 15/16 |  |
`http://www.orpha.net` | 98770 | Spinocerebellar ataxia type 16 |  |
`http://www.orpha.net` | 98759 | Spinocerebellar ataxia type 17 |  |
`http://www.orpha.net` | 98771 | Spinocerebellar ataxia type 18 |  |
`http://www.orpha.net` | 98756 | Spinocerebellar ataxia type 2 |  |
`http://www.orpha.net` | 98773 | Spinocerebellar ataxia type 21 |  |
`http://www.orpha.net` | 98764 | Spinocerebellar ataxia type 27A |  |
`http://www.orpha.net` | 98765 | Spinocerebellar ataxia type 4 |  |
`http://www.orpha.net` | 98766 | Spinocerebellar ataxia type 5 |  |
`http://www.orpha.net` | 98758 | Spinocerebellar ataxia type 6 |  |
`http://www.orpha.net` | 94147 | Spinocerebellar ataxia type 7 |  |
`http://www.orpha.net` | 98760 | Spinocerebellar ataxia type 8 |  |
`http://www.orpha.net` | 94124 | Spinocerebellar ataxia with axonal neuropathy type 1 |  |
`http://www.orpha.net` | 99903 | Spirillary rat-bite fever |  |
`http://www.orpha.net` | 93357 | SPONASTRIME dysplasia |  |
`http://www.orpha.net` | 93346 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type |  |
`http://www.orpha.net` | 93360 | Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type |  |
`http://www.orpha.net` | 99642 | Spondyloepimetaphyseal dysplasia, Handigodu type |  |
`http://www.orpha.net` | 93351 | Spondyloepimetaphyseal dysplasia, Irapa type |  |
`http://www.orpha.net` | 93356 | Spondyloepimetaphyseal dysplasia, Missouri type |  |
`http://www.orpha.net` | 93282 | Spondyloepimetaphyseal dysplasia, PAPSS2 type |  |
`http://www.orpha.net` | 93352 | Spondyloepimetaphyseal dysplasia, Shohat type |  |
`http://www.orpha.net` | 93358 | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |  |
`http://www.orpha.net` | 94068 | Spondyloepiphyseal dysplasia congenita |  |
`http://www.orpha.net` | 93283 | Spondyloepiphyseal dysplasia, Kimberley type |  |
`http://www.orpha.net` | 93280 | Spondyloepiphyseal dysplasia, Omani type |  |
`http://www.orpha.net` | 93315 | Spondylometaphyseal dysplasia, 'corner fracture' type |  |
`http://www.orpha.net` | 93314 | Spondylometaphyseal dysplasia, Kozlowski type |  |
`http://www.orpha.net` | 93316 | Spondylometaphyseal dysplasia, Schmidt type |  |
`http://www.orpha.net` | 93317 | Spondylometaphyseal dysplasia, Sedaghatian type |  |
`http://www.orpha.net` | 99977 | Squamous cell carcinoma of the esophagus |  |
`http://www.orpha.net` | 99919 | Staphylococcal toxic-shock syndrome |  |
`http://www.orpha.net` | 97552 | Steroid-sensitive nephrotic syndrome without renal biopsy |  |
`http://www.orpha.net` | 90653 | Stickler syndrome type 1 |  |
`http://www.orpha.net` | 90654 | Stickler syndrome type 2 |  |
`http://www.orpha.net` | 99064 | Straddling and/or overriding mitral valve |  |
`http://www.orpha.net` | 95461 | Straddling or overriding tricuspid valve |  |
`http://www.orpha.net` | 99905 | Streptobacillary rat-bite fever |  |
`http://www.orpha.net` | 99918 | Streptococcal toxic-shock syndrome |  |
`http://www.orpha.net` | 99113 | Subaortic course of innominate vein |  |
`http://www.orpha.net` | 99796 | Subcortical band heterotopia |  |
`http://www.orpha.net` | 98959 | Subepithelial mucinous corneal dystrophy |  |
`http://www.orpha.net` | 936 | Succinic acidemia |  |
`http://www.orpha.net` | 98915 | Synaptic congenital myasthenic syndromes |  |
`http://www.orpha.net` | 93404 | Syndactyly type 3 |  |
`http://www.orpha.net` | 93405 | Syndactyly type 4 |  |
`http://www.orpha.net` | 93406 | Syndactyly type 5 |  |
`http://www.orpha.net` | 98606 | Syndromic orbital border hypoplasia |  |
`http://www.orpha.net` | 98849 | Systemic mastocytosis with associated hematologic neoplasm |  |
`http://www.orpha.net` | 99170 | Tarsal kink syndrome |  |
`http://www.orpha.net` | 90389 | Telangiectasia macularis eruptiva perstans |  |
`http://www.orpha.net` | 96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 |  |
`http://www.orpha.net` | 983 | Testicular regression syndrome |  |
`http://www.orpha.net` | 96055 | Tetrasomy 21 syndrome |  |
`http://www.orpha.net` | 93274 | Thanatophoric dysplasia type 2 |  |
`http://www.orpha.net` | 93275 | Thanatophoric dysplasia, Glasgow variant |  |
`http://www.orpha.net` | 99917 | Theca steroid-producing cell malignant tumor of ovary, not further specified |  |
`http://www.orpha.net` | 98960 | Thiel-Behnke corneal dystrophy |  |
`http://www.orpha.net` | 99868 | Thymic carcinoma |  |
`http://www.orpha.net` | 97289 | Thymic neuroendocrine tumor |  |
`http://www.orpha.net` | 95712 | Thyroid ectopia |  |
`http://www.orpha.net` | 95719 | Thyroid hemiagenesis |  |
`http://www.orpha.net` | 95720 | Thyroid hypoplasia |  |
`http://www.orpha.net` | 97285 | Thyroid lymphoma |  |
`http://www.orpha.net` | 98141 | Total autosomal monosomy syndrome |  |
`http://www.orpha.net` | 98994 | Total early-onset cataract |  |
`http://www.orpha.net` | 98871 | Transient erythroblastopenia of childhood |  |
`http://www.orpha.net` | 99886 | Transient neonatal diabetes mellitus |  |
`http://www.orpha.net` | 93164 | Transient pseudohypoaldosteronism |  |
`http://www.orpha.net` | 95457 | Tricuspid valve agenesis |  |
`http://www.orpha.net` | 91347 | TSH-secreting pituitary adenoma |  |
`http://www.orpha.net` | 91500 | Tubulointerstitial nephritis and uveitis syndrome |  |
`http://www.orpha.net` | 99053 | Tunnel subaortic stenosis |  |
`http://www.orpha.net` | 99818 | Turcot syndrome with polyposis |  |
`http://www.orpha.net` | 99413 | Turner syndrome due to structural X chromosome anomalies |  |
`http://www.orpha.net` | 95431 | Twin to twin transfusion syndrome |  |
`http://www.orpha.net` | 99745 | Typhoid |  |
`http://www.orpha.net` | 98827 | Unclassified myelodysplastic syndrome |  |
`http://www.orpha.net` | 98825 | Unclassified myelodysplastic/myeloproliferative disease |  |
`http://www.orpha.net` | 93685 | Unicentric Castleman disease |  |
`http://www.orpha.net` | 93176 | Unilateral congenital megacalycosis |  |
`http://www.orpha.net` | 97363 | Unilateral multicystic dysplastic kidney |  |
`http://www.orpha.net` | 91140 | Unspecified juvenile idiopathic arthritis |  |
`http://www.orpha.net` | 99139 | Unstable hemoglobin disease |  |
`http://www.orpha.net` | 94059 | Uremic pruritus |  |
`http://www.orpha.net` | 99054 | Valvular pulmonary stenosis |  |
`http://www.orpha.net` | 97282 | VIPoma |  |
`http://www.orpha.net` | 99971 | Well-differentiated liposarcoma |  |
`http://www.orpha.net` | 902 | Werner syndrome |  |
`http://www.orpha.net` | 904 | Williams syndrome |  |
`http://www.orpha.net` | 905 | Wilson disease |  |
`http://www.orpha.net` | 906 | Wiskott-Aldrich syndrome |  |
`http://www.orpha.net` | 96201 | X small rings syndrome |  |
`http://www.orpha.net` | 95702 | X-linked adrenal hypoplasia congenita |  |
`http://www.orpha.net` | 99014 | X-linked Charcot-Marie-Tooth disease type 5 |  |
`http://www.orpha.net` | 98863 | X-linked Emery-Dreifuss muscular dystrophy |  |
`http://www.orpha.net` | 995 | X-linked fetal akinesia syndrome |  |
`http://www.orpha.net` | 93944 | X-linked intellectual disability, Fichera type |  |
`http://www.orpha.net` | 93947 | X-linked intellectual disability, Golabi-Ito-Hall type |  |
`http://www.orpha.net` | 93952 | X-linked intellectual disability, Hedera type |  |
`http://www.orpha.net` | 93945 | X-linked intellectual disability, Porteous type |  |
`http://www.orpha.net` | 93950 | X-linked intellectual disability, Sutherland-Haan type |  |
`http://www.orpha.net` | 93349 | X-linked spondyloepimetaphyseal dysplasia |  |
`http://www.orpha.net` | 93601 | Xanthinuria type I |  |
`http://www.orpha.net` | 93602 | Xanthinuria type II |  |
`http://www.orpha.net` | 90342 | Xeroderma pigmentosum variant |  |
`http://www.orpha.net` | 99829 | Yellow fever |  |
`http://www.orpha.net` | 97240 | Zebra body myopathy |  |
`http://www.orpha.net` | 913 | Zollinger-Ellison syndrome |  |

Description of the above table(s).