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monarch-initiative / monarch-legacy

Monarch web application and API
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Moved OMIM records should show metadata or get user to right place #314

Closed mellybelly closed 10 years ago

mellybelly commented 10 years ago

For example, see diseases on this page: http://monarchinitiative.org/phenotype/HP_0100257 Which has an entry that states "Moved to 615465" clicking on the link takes you here http://monarchinitiative.org/disease/OMIM_300571 Which has no information. @nlwashington may also have ideas.

nlwashington commented 10 years ago

Hm. yes, what shall we do here. this means that when @pnrobinson curated this resource, the data was in the OMIM_300571 entry, but OMIM has now deprecated it and it should be OMIM:615465....meaning 300571 is effectively a synonym. i can clean up these kinds of titles at ingest/view building time. need to make a NIF ticket for that. also, @pnrobinson, do you have any plans on back-curating? do a report of these be helpful?

pnrobinson commented 10 years ago

Hi,

this happened becasue this entry: http://omim.org/entry/300571 was revised by OMIM and moved to the other indicated entry. Our pipeline currently catches the "other" entries, and we have an entry for 615465, but it seems we do not have all of the "moved" entries. If you can easily make a list of them I will clean things up. The old entry is not to be regarded as a synonym. I think the semantics is best captured by "Obsolete, consider MIM:XXXYYY" So for now I have deleted our old annotation for 300571, and the annotation for 615465 is already OK

-Peter

Dr. med. Peter N. Robinson, MSc. Professor of Medical Genomics Professor in the Bioinformatics Division of the Department of Mathematics and Computer Science of the Freie Universität Berlin Institut für Medizinische Genetik und Humangenetik Charité - Universitätsmedizin Berlin Augustenburger Platz 1 13353 Berlin Germany +4930 450566006 Mobile: 0160 93769872 peter.robinson@charite.de http://compbio.charite.de http://www.human-phenotype-ontology.org Introduction to Bio-Ontologies: http://www.crcpress.com/product/isbn/9781439836651 I have learned from my mistakes, and I am sure I can repeat them exactly ORCID ID:http://orcid.org/0000-0002-0736-9199 Scopus Author ID 7403719646 Appointment request: http://doodle.com/pnrobinson

Von: Nicole Washington [notifications@github.com] Gesendet: Dienstag, 29. April 2014 02:13 An: monarch-initiative/monarch-app Cc: Robinson, Peter Betreff: Re: [monarch-app] Moved OMIM records should show metadata or get user to right place (#314)

Hm. yes, what shall we do here. this means that when @pnrobinsonhttps://github.com/pnrobinson curated this resource, the data was in the OMIM_300571 entry, but OMIM has now deprecated it and it should be OMIM:615465....meaning 300571 is effectively a synonym. i can clean up these kinds of titles at ingest/view building time. need to make a NIF ticket for that. also, @pnrobinsonhttps://github.com/pnrobinson, do you have any plans on back-curating? do a report of these be helpful?

— Reply to this email directly or view it on GitHubhttps://github.com/monarch-initiative/monarch-app/issues/314#issuecomment-41629685.

nlwashington commented 10 years ago

here's the current "moved" entries i currently have. it affects 86 disorders and 686 phenotypes.

On Apr 28, 2014, at 11:20 PM, Peter Robinson wrote:

Hi,

this happened becasue this entry: http://omim.org/entry/300571 was revised by OMIM and moved to the other indicated entry. Our pipeline currently catches the "other" entries, and we have an entry for 615465, but it seems we do not have all of the "moved" entries. If you can easily make a list of them I will clean things up. The old entry is not to be regarded as a synonym. I think the semantics is best captured by "Obsolete, consider MIM:XXXYYY" So for now I have deleted our old annotation for 300571, and the annotation for 615465 is already OK

-Peter

Dr. med. Peter N. Robinson, MSc. Professor of Medical Genomics Professor in the Bioinformatics Division of the Department of Mathematics and Computer Science of the Freie Universität Berlin Institut für Medizinische Genetik und Humangenetik Charité - Universitätsmedizin Berlin Augustenburger Platz 1 13353 Berlin Germany +4930 450566006 Mobile: 0160 93769872 peter.robinson@charite.de http://compbio.charite.de http://www.human-phenotype-ontology.org Introduction to Bio-Ontologies: http://www.crcpress.com/product/isbn/9781439836651 I have learned from my mistakes, and I am sure I can repeat them exactly ORCID ID:http://orcid.org/0000-0002-0736-9199 Scopus Author ID 7403719646 Appointment request: http://doodle.com/pnrobinson

Von: Nicole Washington [notifications@github.com] Gesendet: Dienstag, 29. April 2014 02:13 An: monarch-initiative/monarch-app Cc: Robinson, Peter Betreff: Re: [monarch-app] Moved OMIM records should show metadata or get user to right place (#314)

Hm. yes, what shall we do here. this means that when @pnrobinsonhttps://github.com/pnrobinson curated this resource, the data was in the OMIM_300571 entry, but OMIM has now deprecated it and it should be OMIM:615465....meaning 300571 is effectively a synonym. i can clean up these kinds of titles at ingest/view building time. need to make a NIF ticket for that. also, @pnrobinsonhttps://github.com/pnrobinson, do you have any plans on back-curating? do a report of these be helpful?

— Reply to this email directly or view it on GitHubhttps://github.com/monarch-initiative/monarch-app/issues/314#issuecomment-41629685. — Reply to this email directly or view it on GitHub.

disorder_id disorder_name phenotype_id phenotype_label publication_id OMIM:156590 Moved To 152950 HP:0000252 Microcephaly OMIM:156590 OMIM:201460 Moved To 201475 HP:0003593 Infantile onset OMIM:201460 OMIM:212120 Moved To 212112 HP:0001638 Cardiomyopathy OMIM:212120 OMIM:608454 Moved To 267750 HP:0000268 Dolichocephaly OMIM:608454 OMIM:300240 Moved To 305000 HP:0000252 Microcephaly OMIM:300240 OMIM:272550 Moved To 138500 HP:0000007 Autosomal recessive inheritance OMIM:272550 OMIM:300571 Moved To 615465 HP:0001770 Toe syndactyly OMIM:300571 OMIM:601359 Moved To 163200 HP:0002816 Genu recurvatum OMIM:601359 OMIM:107950 Moved To 138800 HP:0000006 Autosomal dominant inheritance OMIM:107950 OMIM:107950 Moved To 138800 HP:0000119 Abnormality of the genitourinary system OMIM:107950 OMIM:107950 Moved To 138800 HP:0000854 Thyroid adenoma OMIM:107950 OMIM:112900 Moved To 112800 HP:0001163 Abnormality of the metacarpal bones ORPHANET:93389 OMIM:112900 Moved To 112800 HP:0000006 Autosomal dominant inheritance OMIM:112900 OMIM:112900 Moved To 112800 HP:0001798 Anonychia ORPHANET:93389 OMIM:112900 Moved To 112800 HP:0001831 Short toe ORPHANET:93389 OMIM:112900 Moved To 112800 HP:0001841 Preaxial foot polydactyly ORPHANET:93389 OMIM:112900 Moved To 112800 HP:0002164 Nail dysplasia OMIM:112900 OMIM:112900 Moved To 112800 HP:0005048 Synostosis of carpal bones ORPHANET:93389 OMIM:112900 Moved To 112800 HP:0006101 Finger syndactyly ORPHANET:93389 OMIM:112900 Moved To 112800 HP:0009370 Type A brachydactyly OMIM:112900 OMIM:112900 Moved To 112800 HP:0009606 Complete duplication of distal phalanx of the thumb OMIM:112900 OMIM:112900 Moved To 112800 HP:0009623 Proximal placement of thumb ORPHANET:93389 OMIM:112900 Moved To 112800 HP:0009773 Symphalangism affecting the phalanges of the hand ORPHANET:93389 OMIM:112900 Moved To 112800 HP:0009882 Short distal phalanx of finger ORPHANET:93389 OMIM:112900 Moved To 112800 HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes ORPHANET:93389 OMIM:112900 Moved To 112800 HP:0010239 Aplasia of the middle phalanx of the hand OMIM:112900 OMIM:116150 Moved To 116200 And 107250 HP:0000006 Autosomal dominant inheritance OMIM:116150 OMIM:116150 Moved To 116200 And 107250 HP:0000482 Microcornea OMIM:116150 OMIM:116150 Moved To 116200 And 107250 HP:0000518 Cataract OMIM:116150 OMIM:116150 Moved To 116200 And 107250 HP:0000545 Myopia OMIM:116150 OMIM:116150 Moved To 116200 And 107250 HP:0000612 Iris coloboma OMIM:116150 OMIM:116150 Moved To 116200 And 107250 HP:0000647 Sclerocornea OMIM:116150 OMIM:116150 Moved To 116200 And 107250 HP:0000659 Peters anomaly OMIM:116150 OMIM:131445 Moved To 137800 HP:0002888 Ependymoma OMIM:131445 OMIM:131445 Moved To 137800 HP:0000006 Autosomal dominant inheritance OMIM:131445 OMIM:131445 Moved To 137800 HP:0001939 Abnormality of metabolism/homeostasis OMIM:131445 OMIM:137765 Moved To 608328 HP:0000006 Autosomal dominant inheritance OMIM:137765 OMIM:137765 Moved To 608328 HP:0000218 High palate OMIM:137765 OMIM:137765 Moved To 608328 HP:0000248 Brachycephaly OMIM:137765 OMIM:137765 Moved To 608328 HP:0000272 Malar flattening OMIM:137765 OMIM:137765 Moved To 608328 HP:0000303 Mandibular prognathia OMIM:137765 OMIM:137765 Moved To 608328 HP:0000327 Hypoplasia of the maxilla OMIM:137765 OMIM:137765 Moved To 608328 HP:0000501 Glaucoma OMIM:137765 OMIM:137765 Moved To 608328 HP:0000541 Retinal detachment OMIM:137765 OMIM:137765 Moved To 608328 HP:0000545 Myopia OMIM:137765 OMIM:137765 Moved To 608328 HP:0000951 Abnormality of the skin OMIM:137765 OMIM:137765 Moved To 608328 HP:0001083 Ectopia lentis OMIM:137765 OMIM:137765 Moved To 608328 HP:0001156 Brachydactyly syndrome OMIM:137765 OMIM:137765 Moved To 608328 HP:0001387 Joint stiffness OMIM:137765 OMIM:137765 Moved To 608328 HP:0002650 Scoliosis OMIM:137765 OMIM:137765 Moved To 608328 HP:0002808 Kyphosis OMIM:137765 OMIM:137765 Moved To 608328 HP:0004279 Short palm OMIM:137765 OMIM:137765 Moved To 608328 HP:0004322 Short stature OMIM:137765 OMIM:144400 Moved To 143890 HP:0000006 Autosomal dominant inheritance OMIM:144400 OMIM:144400 Moved To 143890 HP:0000951 Abnormality of the skin OMIM:144400 OMIM:144400 Moved To 143890 HP:0001084 Corneal arcus OMIM:144400 OMIM:144400 Moved To 143890 HP:0002155 Hypertriglyceridemia OMIM:144400 OMIM:144400 Moved To 143890 HP:0002635 Atheromatosis OMIM:144400 OMIM:144400 Moved To 143890 HP:0003124 Hypercholesterolemia OMIM:144400 OMIM:144400 Moved To 143890 HP:0003141 Hyperbetalipoproteinemia OMIM:144400 OMIM:156590 Moved To 152950 HP:0007786 Lacunar retinal depigmentation OMIM:156590 OMIM:156590 Moved To 152950 HP:0001145 Chorioretinopathy OMIM:156590 OMIM:156590 Moved To 152950 HP:0001249 Intellectual disability OMIM:156590 OMIM:156590 Moved To 152950 HP:0002007 Frontal bossing OMIM:156590 OMIM:163955 Moved To 163950 And 610733 HP:0004322 Short stature OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0003764 Nevus OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0006099 Metacarpophalangeal joint hyperextensibility OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0006610 Wide intermamillary distance OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000006 Autosomal dominant inheritance OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000028 Cryptorchidism OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000154 Wide mouth OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000286 Epicanthus OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000303 Mandibular prognathia OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000316 Hypertelorism OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000349 Widow's peak OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000358 Posteriorly rotated ears OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000369 Low-set ears OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000407 Sensorineural hearing impairment OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000431 Wide nasal bridge OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000465 Webbed neck OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000470 Short neck OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000494 Downslanted palpebral fissures OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000508 Ptosis OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000577 Exotropia OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0000767 Pectus excavatum OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0001003 Multiple lentigines OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0001004 Lymphedema OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0001028 Hemangioma OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0001249 Intellectual disability OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0001263 Global developmental delay OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0001629 Ventricular septal defect OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0001634 Mitral valve prolapse OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0001642 Pulmonic stenosis OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0001655 Patent foramen ovale OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0002751 Kyphoscoliosis OMIM:163955 OMIM:163955 Moved To 163950 And 610733 HP:0002967 Cubitus valgus OMIM:163955 OMIM:177720 Moved To 194380 HP:0001717 Coronary artery calcification OMIM:177720 OMIM:177720 Moved To 194380 HP:0001718 Mitral stenosis OMIM:177720 OMIM:177720 Moved To 194380 HP:0001723 Restrictive cardiomyopathy OMIM:177720 OMIM:177720 Moved To 194380 HP:0002239 Gastrointestinal hemorrhage OMIM:177720 OMIM:177720 Moved To 194380 HP:0000006 Autosomal dominant inheritance OMIM:177720 OMIM:177720 Moved To 194380 HP:0000951 Abnormality of the skin OMIM:177720 OMIM:177720 Moved To 194380 HP:0001102 Angioid streaks of the retina OMIM:177720 OMIM:177720 Moved To 194380 HP:0001677 Coronary artery disease OMIM:177720 OMIM:177720 Moved To 194380 HP:0004940 Generalized arterial calcification OMIM:177720 OMIM:177720 Moved To 194380 HP:0004950 Peripheral arterial disease OMIM:177720 OMIM:177720 Moved To 194380 HP:0005462 Calcification of falx cerebri OMIM:177720 OMIM:179760 Moved To 144700 HP:0000006 Autosomal dominant inheritance OMIM:179760 OMIM:179760 Moved To 144700 HP:0001939 Abnormality of metabolism/homeostasis OMIM:179760 OMIM:179760 Moved To 144700 HP:0006770 Clear cell renal cell carcinoma OMIM:179760 OMIM:179770 Moved To 144700 HP:0000006 Autosomal dominant inheritance OMIM:179770 OMIM:179770 Moved To 144700 HP:0001939 Abnormality of metabolism/homeostasis OMIM:179770 OMIM:179770 Moved To 144700 HP:0006770 Clear cell renal cell carcinoma OMIM:179770 OMIM:183000 Moved To 137440 HP:0001251 Ataxia OMIM:183000 OMIM:183000 Moved To 137440 HP:0000006 Autosomal dominant inheritance OMIM:183000 OMIM:185010 Moved To 194380 HP:0000006 Autosomal dominant inheritance OMIM:185010 OMIM:185010 Moved To 194380 HP:0001046 Intermittent jaundice OMIM:185010 OMIM:185010 Moved To 194380 HP:0001081 Cholelithiasis OMIM:185010 OMIM:185010 Moved To 194380 HP:0001878 Hemolytic anemia OMIM:185010 OMIM:185010 Moved To 194380 HP:0003575 Increased intracellular sodium OMIM:185010 OMIM:185010 Moved To 194380 HP:0004446 Stomatocytosis OMIM:185010 OMIM:188200 Moved To 107000 HP:0001597 Abnormality of the nail OMIM:188200 OMIM:188600 Moved To 314200 HP:0001939 Abnormality of metabolism/homeostasis OMIM:188600 OMIM:191020 Moved To 120920 HP:0000006 Autosomal dominant inheritance OMIM:191020 OMIM:191020 Moved To 120920 HP:0000119 Abnormality of the genitourinary system OMIM:191020 OMIM:191020 Moved To 120920 HP:0001939 Abnormality of metabolism/homeostasis OMIM:191020 OMIM:191090 Moved To 191100 HP:0000006 Autosomal dominant inheritance OMIM:191090 OMIM:191090 Moved To 191100 HP:0001597 Abnormality of the nail OMIM:191090 OMIM:191090 Moved To 191100 HP:0007554 Confetti hypopigmentation pattern of lower leg skin OMIM:191090 OMIM:191091 Moved To 191100 HP:0000006 Autosomal dominant inheritance OMIM:191091 OMIM:191091 Moved To 191100 HP:0001939 Abnormality of metabolism/homeostasis OMIM:191091 OMIM:193680 Moved To 128101 HP:0001618 Dysphonia OMIM:193680 OMIM:193680 Moved To 128101 HP:0000006 Autosomal dominant inheritance OMIM:193680 OMIM:193680 Moved To 128101 HP:0001304 Torsion dystonia OMIM:193680 OMIM:194100 Moved To 106600 HP:0000164 Abnormality of the teeth OMIM:194100 OMIM:201460 Moved To 201475 HP:0002240 Hepatomegaly OMIM:201460 OMIM:201460 Moved To 201475 HP:0003215 Dicarboxylic aciduria OMIM:201460 OMIM:201460 Moved To 201475 HP:0003234 Decreased plasma carnitine OMIM:201460 OMIM:201460 Moved To 201475 HP:0000007 Autosomal recessive inheritance OMIM:201460 OMIM:201460 Moved To 201475 HP:0001252 Muscular hypotonia OMIM:201460 OMIM:201460 Moved To 201475 HP:0001324 Muscle weakness OMIM:201460 OMIM:201460 Moved To 201475 HP:0001397 Hepatic steatosis OMIM:201460 OMIM:201460 Moved To 201475 HP:0001639 Hypertrophic cardiomyopathy OMIM:201460 OMIM:201460 Moved To 201475 HP:0001645 Sudden cardiac death OMIM:201460 OMIM:201460 Moved To 201475 HP:0001958 Nonketotic hypoglycemia OMIM:201460 OMIM:201460 Moved To 201475 HP:0002013 Vomiting OMIM:201460 OMIM:209000 Moved To 613179 HP:0000007 Autosomal recessive inheritance OMIM:209000 OMIM:209000 Moved To 613179 HP:0000153 Abnormality of the mouth OMIM:209000 OMIM:209000 Moved To 613179 HP:0000765 Abnormality of the thorax OMIM:209000 OMIM:209000 Moved To 613179 HP:0001251 Ataxia OMIM:209000 OMIM:209000 Moved To 613179 HP:0002014 Diarrhea OMIM:209000 OMIM:209000 Moved To 613179 HP:0003487 Babinski sign OMIM:209000 OMIM:209000 Moved To 613179 HP:0004429 Recurrent viral infections OMIM:209000 OMIM:210450 Moved To 607765 HP:0001508 Failure to thrive OMIM:210450 OMIM:210450 Moved To 607765 HP:0001939 Abnormality of metabolism/homeostasis OMIM:210450 OMIM:210450 Moved To 607765 HP:0002028 Chronic diarrhea OMIM:210450 OMIM:212110 Moved To 611880 HP:0000007 Autosomal recessive inheritance OMIM:212110 OMIM:212110 Moved To 611880 HP:0001635 Congestive heart failure OMIM:212110 OMIM:212110 Moved To 611880 HP:0001644 Dilated cardiomyopathy OMIM:212110 OMIM:212120 Moved To 212112 HP:0000007 Autosomal recessive inheritance OMIM:212120 OMIM:212120 Moved To 212112 HP:0001249 Intellectual disability OMIM:212120 OMIM:212120 Moved To 212112 HP:0008734 Decreased testicular size OMIM:212120 OMIM:212900 Moved To 258450 HP:0000007 Autosomal recessive inheritance OMIM:212900 OMIM:212900 Moved To 258450 HP:0000544 External ophthalmoplegia OMIM:212900 OMIM:212900 Moved To 258450 HP:0001251 Ataxia OMIM:212900 OMIM:212900 Moved To 258450 HP:0003593 Infantile onset OMIM:212900 OMIM:218500 Moved To 123100 And 123150 HP:0000007 Autosomal recessive inheritance OMIM:218500 OMIM:218500 Moved To 123100 And 123150 HP:0000262 Turricephaly OMIM:218500 OMIM:218500 Moved To 123100 And 123150 HP:0000268 Dolichocephaly OMIM:218500 OMIM:218500 Moved To 123100 And 123150 HP:0001363 Craniosynostosis OMIM:218500 OMIM:220700 Moved To 220290 HP:0000365 Hearing impairment OMIM:220700 OMIM:220700 Moved To 220290 HP:0001608 Abnormality of the voice OMIM:220700 OMIM:220700 Moved To 220290 HP:0002300 Mutism OMIM:220700 OMIM:224200 Moved To 229200 HP:0011003 Severe Myopia OMIM:224200 OMIM:224200 Moved To 229200 HP:0000007 Autosomal recessive inheritance OMIM:224200 OMIM:224200 Moved To 229200 HP:0000485 Megalocornea OMIM:224200 OMIM:224200 Moved To 229200 HP:0000592 Blue sclerae OMIM:224200 OMIM:224200 Moved To 229200 HP:0007765 Deep anterior chamber OMIM:224200 OMIM:230710 Moved To 272800 HP:0000007 Autosomal recessive inheritance OMIM:230710 OMIM:230710 Moved To 272800 HP:0001257 Spasticity OMIM:230710 OMIM:230710 Moved To 272800 HP:0001263 Global developmental delay OMIM:230710 OMIM:230710 Moved To 272800 HP:0003202 Amyotrophy OMIM:230710 OMIM:235600 Moved To 400045 HP:0000007 Autosomal recessive inheritance OMIM:235600 OMIM:235600 Moved To 400045 HP:0000047 Hypospadias OMIM:235600 OMIM:236490 Moved To 228600 HP:0000007 Autosomal recessive inheritance OMIM:236490 OMIM:236490 Moved To 228600 HP:0000147 Polycystic ovaries ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0000212 Gingival overgrowth OMIM:236490 OMIM:236490 Moved To 228600 HP:0000212 Gingival overgrowth ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0000256 Macrocephaly ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0000280 Coarse facial features ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0000470 Short neck ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0000834 Abnormality of the adrenal glands ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0000939 Osteoporosis OMIM:236490 OMIM:236490 Moved To 228600 HP:0001004 Lymphedema ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0001025 Urticaria ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0001072 Thickened skin OMIM:236490 OMIM:236490 Moved To 228600 HP:0001072 Thickened skin ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0001156 Brachydactyly syndrome ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0001252 Muscular hypotonia ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0001371 Flexion contracture OMIM:236490 OMIM:236490 Moved To 228600 HP:0001376 Limitation of joint mobility ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0001508 Failure to thrive OMIM:236490 OMIM:236490 Moved To 228600 HP:0001522 Death in infancy OMIM:236490 OMIM:236490 Moved To 228600 HP:0001939 Abnormality of metabolism/homeostasis OMIM:236490 OMIM:236490 Moved To 228600 HP:0002014 Diarrhea OMIM:236490 OMIM:236490 Moved To 228600 HP:0002024 Malabsorption ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0002719 Recurrent infections OMIM:236490 OMIM:236490 Moved To 228600 HP:0002757 Recurrent fractures ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0002983 Micromelia ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0004322 Short stature ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0004349 Reduced bone mineral density ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0006482 Abnormality of dental morphology ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0007400 Irregular hyperpigmentation ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0010978 Abnormality of immune system physiology ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0100490 Camptodactyly of finger ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0100585 Teleangiectasia of the skin ORPHANET:2176 OMIM:236490 Moved To 228600 HP:0200042 Skin ulcer ORPHANET:2176 OMIM:252200 Moved To 158000 And 607903 HP:0001596 Alopecia OMIM:252200 OMIM:252200 Moved To 158000 And 607903 HP:0007468 Perifollicular hyperkeratosis OMIM:252200 OMIM:253230 Moved To 601492 HP:0000007 Autosomal recessive inheritance OMIM:253230 OMIM:253230 Moved To 601492 HP:0000943 Dysostosis multiplex OMIM:253230 OMIM:253230 Moved To 601492 HP:0001007 Hirsutism OMIM:253230 OMIM:253230 Moved To 601492 HP:0001249 Intellectual disability OMIM:253230 OMIM:253230 Moved To 601492 HP:0001939 Abnormality of metabolism/homeostasis OMIM:253230 OMIM:253230 Moved To 601492 HP:0002208 Coarse hair OMIM:253230 OMIM:253230 Moved To 601492 HP:0002240 Hepatomegaly OMIM:253230 OMIM:253230 Moved To 601492 HP:0003311 Hypoplasia of the odontoid process OMIM:253230 OMIM:253230 Moved To 601492 HP:0004322 Short stature OMIM:253230 OMIM:258920 Moved To 258900 HP:0000007 Autosomal recessive inheritance OMIM:258920 OMIM:258920 Moved To 258900 HP:0001249 Intellectual disability OMIM:258920 OMIM:258920 Moved To 258900 HP:0002719 Recurrent infections OMIM:258920 OMIM:258920 Moved To 258900 HP:0002843 Abnormality of T cells OMIM:258920 OMIM:258920 Moved To 258900 HP:0003218 Oroticaciduria OMIM:258920 OMIM:258920 Moved To 258900 HP:0003267 Reduced orotidine 5-prime phosphate decarboxylase activity OMIM:258920 OMIM:258920 Moved To 258900 HP:0003339 Pyrimidine-responsive megaloblastic anemia OMIM:258920 OMIM:258920 Moved To 258900 HP:0003526 Orotic acid crystalluria OMIM:258920 OMIM:258920 Moved To 258900 HP:0004826 Folate-unresponsive megaloblastic anemia OMIM:258920 OMIM:262350 Moved To 194190 HP:0003510 Severe short stature OMIM:262350 OMIM:262350 Moved To 194190 HP:0001511 Intrauterine growth retardation OMIM:262350 OMIM:262350 Moved To 194190 HP:0000007 Autosomal recessive inheritance OMIM:262350 OMIM:262350 Moved To 194190 HP:0000154 Wide mouth OMIM:262350 OMIM:262350 Moved To 194190 HP:0000188 Short upper lip OMIM:262350 OMIM:262350 Moved To 194190 HP:0000252 Microcephaly OMIM:262350 OMIM:262350 Moved To 194190 HP:0000506 Telecanthus OMIM:262350 OMIM:262350 Moved To 194190 HP:0000520 Proptosis OMIM:262350 OMIM:262350 Moved To 194190 HP:0001249 Intellectual disability OMIM:262350 OMIM:263510 Moved To 613091 HP:0000007 Autosomal recessive inheritance OMIM:263510 OMIM:263510 Moved To 613091 HP:0000062 Ambiguous genitalia OMIM:263510 OMIM:263510 Moved To 613091 HP:0000773 Short ribs OMIM:263510 OMIM:263510 Moved To 613091 HP:0000774 Narrow chest OMIM:263510 OMIM:263510 Moved To 613091 HP:0002007 Frontal bossing OMIM:263510 OMIM:263510 Moved To 613091 HP:0003016 Metaphyseal widening OMIM:263510 OMIM:263510 Moved To 613091 HP:0005280 Depressed nasal bridge OMIM:263510 OMIM:263510 Moved To 613091 HP:0005469 Flat occiput OMIM:263510 OMIM:263510 Moved To 613091 HP:0011220 Prominent forehead OMIM:263510 OMIM:263530 Moved To 613091 HP:0000007 Autosomal recessive inheritance OMIM:263530 OMIM:263530 Moved To 613091 HP:0000113 Polycystic kidney dysplasia OMIM:263530 OMIM:263530 Moved To 613091 HP:0000773 Short ribs OMIM:263530 OMIM:263530 Moved To 613091 HP:0001162 Postaxial hand polydactyly OMIM:263530 OMIM:263530 Moved To 613091 HP:0001669 Transposition of the great arteries OMIM:263530 OMIM:263530 Moved To 613091 HP:0001789 Hydrops fetalis OMIM:263530 OMIM:263530 Moved To 613091 HP:0001827 Genital tract atresia OMIM:263530 OMIM:263530 Moved To 613091 HP:0002589 Gastrointestinal atresia OMIM:263530 OMIM:263530 Moved To 613091 HP:0002983 Micromelia OMIM:263530 OMIM:263530 Moved To 613091 HP:0005716 Lethal skeletal dysplasia OMIM:263530 OMIM:263530 Moved To 613091 HP:0010454 Acetabular spurs OMIM:263530 OMIM:263530 Moved To 613091 HP:0100255 Metaphyseal dysplasia OMIM:263530 OMIM:263560 Moved To 214400 HP:0000007 Autosomal recessive inheritance OMIM:263560 OMIM:263560 Moved To 214400 HP:0003677 Slow progression OMIM:263560 OMIM:263560 Moved To 214400 HP:0007141 Sensorimotor neuropathy OMIM:263560 OMIM:272550 Moved To 138500 HP:0001250 Seizures OMIM:272550 OMIM:272550 Moved To 138500 HP:0001279 Syncope OMIM:272550 OMIM:272550 Moved To 138500 HP:0003108 Hyperglycinuria OMIM:272550 OMIM:272550 Moved To 138500 HP:0006688 Paroxysmal tachycardia OMIM:272550 OMIM:272550 Moved To 138500 HP:0000822 Hypertension OMIM:272550 OMIM:272550 Moved To 138500 HP:0000518 Cataract OMIM:272550 OMIM:272550 Moved To 138500 HP:0000568 Microphthalmos OMIM:272550 OMIM:272550 Moved To 138500 HP:0000787 Nephrolithiasis OMIM:272550 OMIM:278810 Moved To 278720 HP:0001939 Abnormality of metabolism/homeostasis OMIM:278810 OMIM:300240 Moved To 305000 HP:0001419 X-linked recessive inheritance OMIM:300240 OMIM:300240 Moved To 305000 HP:0001522 Death in infancy OMIM:300240 OMIM:300240 Moved To 305000 HP:0001873 Thrombocytopenia OMIM:300240 OMIM:300240 Moved To 305000 HP:0001511 Intrauterine growth retardation OMIM:300240 OMIM:300240 Moved To 305000 HP:0001249 Intellectual disability OMIM:300240 OMIM:300240 Moved To 305000 HP:0001251 Ataxia OMIM:300240 OMIM:300240 Moved To 305000 HP:0001321 Cerebellar hypoplasia OMIM:300240 OMIM:300240 Moved To 305000 HP:0001876 Pancytopenia OMIM:300240 OMIM:300240 Moved To 305000 HP:0001903 Anemia OMIM:300240 OMIM:300240 Moved To 305000 HP:0002438 Cerebellar malformation OMIM:300240 OMIM:300240 Moved To 305000 HP:0005528 Bone marrow hypocellularity OMIM:300240 OMIM:300240 Moved To 305000 HP:0011107 Recurrent aphthous stomatitis OMIM:300240 OMIM:300250 Moved To 202200 HP:0008872 Feeding difficulties in infancy OMIM:300250 OMIM:300250 Moved To 202200 HP:0000846 Adrenal insufficiency OMIM:300250 OMIM:300250 Moved To 202200 HP:0000953 Hyperpigmentation of the skin OMIM:300250 OMIM:300250 Moved To 202200 HP:0001943 Hypoglycemia OMIM:300250 OMIM:300290 Moved To 614732 HP:0005280 Depressed nasal bridge OMIM:300290 OMIM:300290 Moved To 614732 HP:0003196 Short nose OMIM:300290 OMIM:300290 Moved To 614732 HP:0000028 Cryptorchidism OMIM:300290 OMIM:300290 Moved To 614732 HP:0000047 Hypospadias OMIM:300290 OMIM:300290 Moved To 614732 HP:0000054 Micropenis OMIM:300290 OMIM:300290 Moved To 614732 HP:0000369 Low-set ears OMIM:300290 OMIM:300290 Moved To 614732 HP:0000824 Growth hormone deficiency OMIM:300290 OMIM:300290 Moved To 614732 HP:0001511 Intrauterine growth retardation OMIM:300290 OMIM:300290 Moved To 614732 HP:0002150 Hypercalciuria OMIM:300290 OMIM:300290 Moved To 614732 HP:0002656 Epiphyseal dysplasia OMIM:300290 OMIM:300290 Moved To 614732 HP:0002750 Delayed skeletal maturation OMIM:300290 OMIM:300290 Moved To 614732 HP:0003072 Hypercalcemia OMIM:300290 OMIM:300290 Moved To 614732 HP:0008897 Postnatal growth retardation OMIM:300290 OMIM:300290 Moved To 614732 HP:0011220 Prominent forehead OMIM:300290 OMIM:300290 Moved To 614732 HP:0100255 Metaphyseal dysplasia OMIM:300290 OMIM:300571 Moved To 615465 HP:0000028 Cryptorchidism OMIM:300571 OMIM:300571 Moved To 615465 HP:0000047 Hypospadias OMIM:300571 OMIM:300571 Moved To 615465 HP:0000054 Micropenis OMIM:300571 OMIM:300571 Moved To 615465 HP:0000175 Cleft palate OMIM:300571 OMIM:300571 Moved To 615465 HP:0000204 Cleft upper lip OMIM:300571 OMIM:300571 Moved To 615465 HP:0000252 Microcephaly OMIM:300571 OMIM:300571 Moved To 615465 HP:0000286 Epicanthus OMIM:300571 OMIM:300571 Moved To 615465 HP:0000316 Hypertelorism OMIM:300571 OMIM:300571 Moved To 615465 HP:0000358 Posteriorly rotated ears OMIM:300571 OMIM:300571 Moved To 615465 HP:0000369 Low-set ears OMIM:300571 OMIM:300571 Moved To 615465 HP:0000445 Wide nose OMIM:300571 OMIM:300571 Moved To 615465 HP:0000601 Hypotelorism OMIM:300571 OMIM:300571 Moved To 615465 HP:0000873 Diabetes insipidus OMIM:300571 OMIM:300571 Moved To 615465 HP:0001171 Split hand OMIM:300571 OMIM:300571 Moved To 615465 HP:0001263 Global developmental delay OMIM:300571 OMIM:300571 Moved To 615465 HP:0001274 Agenesis of corpus callosum OMIM:300571 OMIM:300571 Moved To 615465 HP:0001319 Neonatal hypotonia OMIM:300571 OMIM:300571 Moved To 615465 HP:0001363 Craniosynostosis OMIM:300571 OMIM:300571 Moved To 615465 HP:0001417 X-linked inheritance OMIM:300571 OMIM:300571 Moved To 615465 HP:0001839 Split foot OMIM:300571 OMIM:300571 Moved To 615465 HP:0003228 Hypernatremia OMIM:300571 OMIM:300571 Moved To 615465 HP:0003745 Sporadic OMIM:300571 OMIM:300571 Moved To 615465 HP:0005466 Frontal bone hypoplasia OMIM:300571 OMIM:300571 Moved To 615465 HP:0006870 Lobar holoprosencephaly OMIM:300571 OMIM:300571 Moved To 615465 HP:0008213 Gonadotropin deficiency OMIM:300571 OMIM:301090 Moved To 273395 HP:0001417 X-linked inheritance OMIM:301090 OMIM:301090 Moved To 273395 HP:0002023 Anal atresia OMIM:301090 OMIM:301090 Moved To 273395 HP:0003057 Tetraamelia OMIM:301090 OMIM:302300 Moved To 302200 HP:0000519 Congenital cataract OMIM:302300 OMIM:304590 Moved To 304500 HP:0000407 Sensorineural hearing impairment OMIM:304590 OMIM:302300 Moved To 302200 HP:0000568 Microphthalmos OMIM:302300 OMIM:304590 Moved To 304500 HP:0001417 X-linked inheritance OMIM:304590 OMIM:302300 Moved To 302200 HP:0001417 X-linked inheritance OMIM:302300 OMIM:302300 Moved To 302200 HP:0000482 Microcornea OMIM:302300 OMIM:304000 Moved To 613522 HP:0000551 Abnormality of color vision OMIM:304000 OMIM:305300 Moved To 302060 HP:0001712 Left ventricular hypertrophy OMIM:305300 OMIM:305300 Moved To 302060 HP:0001635 Congestive heart failure OMIM:305300 OMIM:305300 Moved To 302060 HP:0001706 Endocardial fibroelastosis OMIM:305300 OMIM:306100 Moved To 400044 HP:0000057 Clitoromegaly OMIM:306100 OMIM:306100 Moved To 400044 HP:0000133 Gonadal dysgenesis OMIM:306100 OMIM:306100 Moved To 400044 HP:0000141 Amenorrhea OMIM:306100 OMIM:306100 Moved To 400044 HP:0001417 X-linked inheritance OMIM:306100 OMIM:306100 Moved To 400044 HP:0001939 Abnormality of metabolism/homeostasis OMIM:306100 OMIM:306100 Moved To 400044 HP:0002664 Neoplasm OMIM:306100 OMIM:306100 Moved To 400044 HP:0008187 Absence of secondary sex characteristics OMIM:306100 OMIM:306100 Moved To 400044 HP:0008703 Gonadal calcification OMIM:306100 OMIM:306970 Moved To 426000 HP:0001417 X-linked inheritance OMIM:306970 OMIM:309700 Moved To 310600 HP:0000528 Anophthalmia OMIM:309700 OMIM:309700 Moved To 310600 HP:0000568 Microphthalmos OMIM:309700 OMIM:309700 Moved To 310600 HP:0000618 Blindness OMIM:309700 OMIM:309700 Moved To 310600 HP:0001249 Intellectual disability OMIM:309700 OMIM:309700 Moved To 310600 HP:0007957 Corneal opacity OMIM:309700 OMIM:311280 Moved To 300373 HP:0000944 Abnormality of the metaphyses ORPHANET:2779 OMIM:311280 Moved To 300373 HP:0000940 Abnormal diaphysis morphology ORPHANET:2779 OMIM:311280 Moved To 300373 HP:0002211 White forelock ORPHANET:2779 OMIM:311280 Moved To 300373 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:2779 OMIM:311280 Moved To 300373 HP:0007400 Irregular hyperpigmentation ORPHANET:2779 OMIM:311280 Moved To 300373 HP:0100670 Rough bone trabeculation ORPHANET:2779 OMIM:610426 Moved To 610425 HP:0000006 Autosomal dominant inheritance pmid:16960806 OMIM:610426 Moved To 610425 HP:0000490 Deeply set eye pmid:16960806 OMIM:312860 Moved To 272440 HP:0000233 Thin vermilion border OMIM:312860 OMIM:312860 Moved To 272440 HP:0000248 Brachycephaly OMIM:312860 OMIM:312860 Moved To 272440 HP:0000252 Microcephaly OMIM:312860 OMIM:312860 Moved To 272440 HP:0000316 Hypertelorism OMIM:312860 OMIM:312860 Moved To 272440 HP:0000347 Micrognathia OMIM:312860 OMIM:312860 Moved To 272440 HP:0000347 Micrognathia ORPHANET:1514 OMIM:312860 Moved To 272440 HP:0000414 Bulbous nose OMIM:312860 OMIM:312860 Moved To 272440 HP:0000446 Narrow nasal bridge ORPHANET:1514 OMIM:312860 Moved To 272440 HP:0000460 Narrow nose OMIM:312860 OMIM:312860 Moved To 272440 HP:0000527 Long eyelashes OMIM:312860 OMIM:312860 Moved To 272440 HP:0000574 Thick eyebrow OMIM:312860 OMIM:312860 Moved To 272440 HP:0000574 Thick eyebrow ORPHANET:1514 OMIM:610426 Moved To 610425 HP:0000518 Cataract pmid:16960806 OMIM:312860 Moved To 272440 HP:0000954 Single transverse palmar crease OMIM:312860 OMIM:312860 Moved To 272440 HP:0000998 Hypertrichosis ORPHANET:1514 OMIM:312860 Moved To 272440 HP:0001007 Hirsutism OMIM:312860 OMIM:312860 Moved To 272440 HP:0001249 Intellectual disability OMIM:312860 OMIM:312860 Moved To 272440 HP:0001250 Seizures OMIM:312860 OMIM:312860 Moved To 272440 HP:0001263 Global developmental delay OMIM:312860 OMIM:312860 Moved To 272440 HP:0001419 X-linked recessive inheritance OMIM:312860 OMIM:312860 Moved To 272440 HP:0001510 Growth delay OMIM:312860 OMIM:312860 Moved To 272440 HP:0001770 Toe syndactyly OMIM:312860 OMIM:312860 Moved To 272440 HP:0002208 Coarse hair ORPHANET:1514 OMIM:312860 Moved To 272440 HP:0002648 Abnormality of calvarial morphology ORPHANET:1514 OMIM:312860 Moved To 272440 HP:0002750 Delayed skeletal maturation OMIM:312860 OMIM:312860 Moved To 272440 HP:0003196 Short nose OMIM:312860 OMIM:312860 Moved To 272440 HP:0003196 Short nose ORPHANET:1514 OMIM:312860 Moved To 272440 HP:0003298 Spina bifida occulta OMIM:312860 OMIM:312860 Moved To 272440 HP:0003298 Spina bifida occulta ORPHANET:1514 OMIM:312860 Moved To 272440 HP:0004322 Short stature ORPHANET:1514 OMIM:312860 Moved To 272440 HP:0005469 Flat occiput OMIM:312860 OMIM:312860 Moved To 272440 HP:0005819 Short middle phalanx of finger OMIM:312860 OMIM:312860 Moved To 272440 HP:0006101 Finger syndactyly ORPHANET:1514 OMIM:312860 Moved To 272440 HP:0007099 Arnold-Chiari type I malformation OMIM:312860 OMIM:312860 Moved To 272440 HP:0007477 Abnormal dermatoglyphics ORPHANET:1514 OMIM:312860 Moved To 272440 HP:0100543 Cognitive impairment ORPHANET:1514 OMIM:610426 Moved To 610425 HP:0000568 Microphthalmos pmid:16960806 OMIM:315000 Moved To 302200 HP:0000518 Cataract OMIM:315000 OMIM:315000 Moved To 302200 HP:0000639 Nystagmus OMIM:315000 OMIM:600095 Moved To 246560 HP:0001171 Split hand OMIM:600095 OMIM:600095 Moved To 246560 HP:0001839 Split foot OMIM:600095 OMIM:600095 Moved To 246560 HP:0004058 Monodactyly (hands) OMIM:600095 OMIM:600256 Moved To 123155 HP:0000006 Autosomal dominant inheritance OMIM:600256 OMIM:600256 Moved To 123155 HP:0000238 Hydrocephalus OMIM:600256 OMIM:601085 Moved To 245570 HP:0000006 Autosomal dominant inheritance OMIM:601085 OMIM:601085 Moved To 245570 HP:0001939 Abnormality of metabolism/homeostasis OMIM:601085 OMIM:601085 Moved To 245570 HP:0007301 Oromotor apraxia OMIM:601085 OMIM:601085 Moved To 245570 HP:0007359 Focal seizures OMIM:601085 OMIM:601085 Moved To 245570 HP:0100543 Cognitive impairment OMIM:601085 OMIM:601251 Moved To 601777 HP:0000551 Abnormality of color vision OMIM:601251 OMIM:601222 Moved To 185900 HP:0010554 Cutaneous finger syndactyly OMIM:601222 OMIM:601222 Moved To 185900 HP:0000006 Autosomal dominant inheritance OMIM:601222 OMIM:601222 Moved To 185900 HP:0004442 Sagittal craniosynostosis OMIM:601222 OMIM:601222 Moved To 185900 HP:0010621 Cutaneous syndactyly of toes OMIM:601222 OMIM:601251 Moved To 601777 HP:0000006 Autosomal dominant inheritance OMIM:601251 OMIM:601251 Moved To 601777 HP:0000613 Photophobia OMIM:601251 OMIM:601251 Moved To 601777 HP:0001939 Abnormality of metabolism/homeostasis OMIM:601251 OMIM:601251 Moved To 601777 HP:0003621 Juvenile onset OMIM:601251 OMIM:601251 Moved To 601777 HP:0007663 Decreased central vision OMIM:601251 OMIM:601251 Moved To 601777 HP:0008020 Progressive cone degeneration OMIM:601251 OMIM:601286 Moved To 115700 HP:0000006 Autosomal dominant inheritance OMIM:601286 OMIM:601286 Moved To 115700 HP:0007692 Nonnuclear polymorphic congenital cataract OMIM:601286 OMIM:601359 Moved To 163200 HP:0000612 Iris coloboma OMIM:601359 OMIM:601359 Moved To 163200 HP:0000951 Abnormality of the skin OMIM:601359 OMIM:601359 Moved To 163200 HP:0001159 Syndactyly OMIM:601359 OMIM:601359 Moved To 163200 HP:0001274 Agenesis of corpus callosum OMIM:601359 OMIM:601359 Moved To 163200 HP:0001302 Pachygyria OMIM:601359 OMIM:601359 Moved To 163200 HP:0001305 Dandy-Walker malformation OMIM:601359 OMIM:601359 Moved To 163200 HP:0001528 Hemihypertrophy OMIM:601359 OMIM:601359 Moved To 163200 HP:0001762 Talipes equinovarus OMIM:601359 OMIM:601359 Moved To 163200 HP:0007206 Hemimegalencephaly OMIM:601359 OMIM:601378 Moved To 272430 HP:0000007 Autosomal recessive inheritance OMIM:601378 OMIM:601378 Moved To 272430 HP:0000160 Narrow mouth OMIM:601378 OMIM:601378 Moved To 272430 HP:0000160 Narrow mouth ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0000174 Abnormality of the palate ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0000211 Trismus OMIM:601378 OMIM:601378 Moved To 272430 HP:0000278 Retrognathia OMIM:601378 OMIM:601378 Moved To 272430 HP:0000293 Full cheeks OMIM:601378 OMIM:601378 Moved To 272430 HP:0000293 Full cheeks ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0000343 Long philtrum OMIM:601378 OMIM:601378 Moved To 272430 HP:0000343 Long philtrum ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0000347 Micrognathia OMIM:601378 OMIM:601378 Moved To 272430 HP:0000347 Micrognathia ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0000369 Low-set ears OMIM:601378 OMIM:601378 Moved To 272430 HP:0000445 Wide nose OMIM:601378 OMIM:601378 Moved To 272430 HP:0000463 Anteverted nares OMIM:601378 OMIM:601378 Moved To 272430 HP:0000463 Anteverted nares ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0000470 Short neck OMIM:601378 OMIM:601378 Moved To 272430 HP:0000750 Delayed speech and language development OMIM:601378 OMIM:601378 Moved To 272430 HP:0000966 Hypohidrosis ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0000975 Hyperhidrosis ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0001181 Adducted thumb OMIM:601378 OMIM:601378 Moved To 272430 HP:0001250 Seizures ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0001263 Global developmental delay OMIM:601378 OMIM:601378 Moved To 272430 HP:0001276 Hypertonia ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0001376 Limitation of joint mobility ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0001510 Growth delay OMIM:601378 OMIM:601378 Moved To 272430 HP:0001645 Sudden cardiac death ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0001762 Talipes equinovarus OMIM:601378 OMIM:601378 Moved To 272430 HP:0001954 Episodic fever OMIM:601378 OMIM:601378 Moved To 272430 HP:0002047 Malignant hyperthermia ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0002093 Respiratory insufficiency ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0002094 Dyspnea OMIM:601378 OMIM:601378 Moved To 272430 HP:0002179 Opisthotonus OMIM:601378 OMIM:601378 Moved To 272430 HP:0002197 Generalized seizures OMIM:601378 OMIM:601378 Moved To 272430 HP:0002650 Scoliosis OMIM:601378 OMIM:601378 Moved To 272430 HP:0002650 Scoliosis ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0002808 Kyphosis OMIM:601378 OMIM:601378 Moved To 272430 HP:0002808 Kyphosis ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0002987 Elbow flexion contracture OMIM:601378 OMIM:601378 Moved To 272430 HP:0003593 Infantile onset OMIM:601378 OMIM:601378 Moved To 272430 HP:0003781 Excessive salivation OMIM:601378 OMIM:601378 Moved To 272430 HP:0005617 Bilateral camptodactyly OMIM:601378 OMIM:601378 Moved To 272430 HP:0008872 Feeding difficulties in infancy OMIM:601378 OMIM:601378 Moved To 272430 HP:0100490 Camptodactyly of finger ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0100543 Cognitive impairment ORPHANET:1545 OMIM:601378 Moved To 272430 HP:0100729 Large face OMIM:601378 OMIM:601378 Moved To 272430 HP:0100729 Large face ORPHANET:1545 OMIM:601451 Moved To 225400 HP:0000007 Autosomal recessive inheritance OMIM:601451 OMIM:601451 Moved To 225400 HP:0000969 Edema OMIM:601451 OMIM:601451 Moved To 225400 HP:0001290 Generalized hypotonia OMIM:601451 OMIM:601451 Moved To 225400 HP:0001507 Growth abnormality OMIM:601451 OMIM:601451 Moved To 225400 HP:0001883 Talipes OMIM:601451 OMIM:601451 Moved To 225400 HP:0002007 Frontal bossing OMIM:601451 OMIM:601451 Moved To 225400 HP:0002808 Kyphosis OMIM:601451 OMIM:601451 Moved To 225400 HP:0002904 Hyperbilirubinemia OMIM:601451 OMIM:601451 Moved To 225400 HP:0011220 Prominent forehead OMIM:601451 OMIM:602036 Moved To 133200 HP:0000006 Autosomal dominant inheritance OMIM:602036 OMIM:602036 Moved To 133200 HP:0000982 Palmoplantar keratoderma OMIM:602036 OMIM:602036 Moved To 133200 HP:0001597 Abnormality of the nail OMIM:602036 OMIM:602036 Moved To 133200 HP:0003593 Infantile onset OMIM:602036 OMIM:602036 Moved To 133200 HP:0009775 Amniotic constriction ring OMIM:602036 OMIM:602036 Moved To 133200 HP:0010783 Erythema OMIM:602036 OMIM:602084 Moved To 601728 HP:0002664 Neoplasm OMIM:602084 OMIM:605839 Moved To 150800 HP:0000006 Autosomal dominant inheritance OMIM:605839 OMIM:605839 Moved To 150800 HP:0000131 Uterine leiomyoma OMIM:605839 OMIM:605839 Moved To 150800 HP:0002891 Uterine leiomyosarcoma OMIM:605839 OMIM:605839 Moved To 150800 HP:0003536 Decreased fumarate hydratase activity OMIM:605839 OMIM:605839 Moved To 150800 HP:0003812 Phenotypic variability OMIM:605839 OMIM:605839 Moved To 150800 HP:0006732 Papillary renal cell carcinoma type 2 OMIM:605839 OMIM:605839 Moved To 150800 HP:0006755 Cutaneous leiomyosarcoma OMIM:605839 OMIM:605839 Moved To 150800 HP:0007620 Cutaneous leiomyoma OMIM:605839 OMIM:606858 Moved To 251200 HP:0000007 Autosomal recessive inheritance OMIM:606858 OMIM:606858 Moved To 251200 HP:0000153 Abnormality of the mouth OMIM:606858 OMIM:606858 Moved To 251200 HP:0000252 Microcephaly OMIM:606858 OMIM:606858 Moved To 251200 HP:0000340 Sloping forehead OMIM:606858 OMIM:606858 Moved To 251200 HP:0000582 Upslanted palpebral fissure OMIM:606858 OMIM:606858 Moved To 251200 HP:0001257 Spasticity OMIM:606858 OMIM:606858 Moved To 251200 HP:0001302 Pachygyria OMIM:606858 OMIM:606858 Moved To 251200 HP:0001347 Hyperreflexia OMIM:606858 OMIM:606858 Moved To 251200 HP:0001518 Small for gestational age OMIM:606858 OMIM:606858 Moved To 251200 HP:0002472 Small cerebral cortex OMIM:606858 OMIM:606858 Moved To 251200 HP:0003451 Increased rate of premature chromosome condensation OMIM:606858 OMIM:606858 Moved To 251200 HP:0004322 Short stature OMIM:606858 OMIM:606858 Moved To 251200 HP:0005486 Small fontanelles OMIM:606858 OMIM:606858 Moved To 251200 HP:0006887 Intellectual disability, progressive OMIM:606858 OMIM:606858 Moved To 251200 HP:0007165 Periventricular gray matter heterotopia OMIM:606858 OMIM:607133 Moved To 601547 HP:0000006 Autosomal dominant inheritance pmid:11424921 OMIM:607133 Moved To 601547 HP:0010695 Sutural cataract pmid:11424921 OMIM:607322 Moved To 143470 HP:0000006 Autosomal dominant inheritance OMIM:607322 OMIM:607322 Moved To 143470 HP:0001939 Abnormality of metabolism/homeostasis OMIM:607322 OMIM:608454 Moved To 267750 HP:0000394 Lop ear OMIM:608454 OMIM:608454 Moved To 267750 HP:0000505 Visual impairment OMIM:608454 OMIM:608454 Moved To 267750 HP:0000007 Autosomal recessive inheritance OMIM:608454 OMIM:608454 Moved To 267750 HP:0000518 Cataract OMIM:608454 OMIM:608454 Moved To 267750 HP:0000541 Retinal detachment OMIM:608454 OMIM:608454 Moved To 267750 HP:0000655 Vitreoretinal degeneration OMIM:608454 OMIM:608454 Moved To 267750 HP:0001083 Ectopia lentis OMIM:608454 OMIM:608454 Moved To 267750 HP:0001195 Single umbilical artery OMIM:608454 OMIM:608454 Moved To 267750 HP:0001595 Abnormality of the hair OMIM:608454 OMIM:608454 Moved To 267750 HP:0001629 Ventricular septal defect OMIM:608454 OMIM:608454 Moved To 267750 HP:0001643 Patent ductus arteriosus OMIM:608454 OMIM:608454 Moved To 267750 HP:0002021 Pyloric stenosis OMIM:608454 OMIM:608454 Moved To 267750 HP:0002085 Occipital encephalocele OMIM:608454 OMIM:608454 Moved To 267750 HP:0002436 Occipital meningocele OMIM:608454 OMIM:608454 Moved To 267750 HP:0002789 Tachypnea OMIM:608454 OMIM:608454 Moved To 267750 HP:0006529 Abnormal pulmonary lymphatics OMIM:608454 OMIM:608454 Moved To 267750 HP:0011003 Severe Myopia OMIM:608454 OMIM:608983 Moved To 115700 HP:0000006 Autosomal dominant inheritance OMIM:608983 OMIM:608983 Moved To 115700 HP:0007976 Cerulean cataract OMIM:608983 OMIM:610634 Moved To 115650 HP:0000006 Autosomal dominant inheritance OMIM:610634 OMIM:610634 Moved To 115650 HP:0001115 Posterior polar cataract pmid:17047090 OMIM:611948 Moved To 267750 HP:0000639 Nystagmus OMIM:611948 OMIM:611948 Moved To 267750 HP:0000655 Vitreoretinal degeneration OMIM:611948 OMIM:611948 Moved To 267750 HP:0000007 Autosomal recessive inheritance OMIM:611948 OMIM:611948 Moved To 267750 HP:0000501 Glaucoma OMIM:611948 OMIM:611948 Moved To 267750 HP:0000518 Cataract OMIM:611948 OMIM:611948 Moved To 267750 HP:0000533 Chorioretinal atrophy OMIM:611948 OMIM:611948 Moved To 267750 HP:0000608 Macular degeneration OMIM:611948 OMIM:611948 Moved To 267750 HP:0000618 Blindness OMIM:611948 OMIM:611948 Moved To 267750 HP:0000662 Night blindness OMIM:611948 OMIM:611948 Moved To 267750 HP:0000667 Phthisis bulbi OMIM:611948 OMIM:611948 Moved To 267750 HP:0001132 Lens subluxation OMIM:611948 OMIM:611948 Moved To 267750 HP:0001150 Choroidal sclerosis OMIM:611948 OMIM:611948 Moved To 267750 HP:0007385 Aplasia cutis congenita of scalp OMIM:611948 OMIM:611948 Moved To 267750 HP:0011003 Severe Myopia OMIM:611948 OMIM:613034 Moved To 612541 HP:0001875 Neutropenia OMIM:613034 OMIM:613034 Moved To 612541 HP:0001882 Leukopenia OMIM:613034 OMIM:613034 Moved To 612541 HP:0001888 Lymphopenia OMIM:613034 OMIM:612391 Moved To 602782 HP:0000824 Growth hormone deficiency OMIM:612391 OMIM:612391 Moved To 602782 HP:0000007 Autosomal recessive inheritance OMIM:612391 OMIM:612391 Moved To 602782 HP:0000027 Azoospermia OMIM:612391 OMIM:612391 Moved To 602782 HP:0000054 Micropenis OMIM:612391 OMIM:612391 Moved To 602782 HP:0000407 Sensorineural hearing impairment OMIM:612391 OMIM:612391 Moved To 602782 HP:0000520 Proptosis OMIM:612391 OMIM:612391 Moved To 602782 HP:0000771 Gynecomastia OMIM:612391 OMIM:612391 Moved To 602782 HP:0000815 Hypergonadotropic hypogonadism OMIM:612391 OMIM:612391 Moved To 602782 HP:0000819 Diabetes mellitus OMIM:612391 OMIM:612391 Moved To 602782 HP:0000953 Hyperpigmentation of the skin OMIM:612391 OMIM:612391 Moved To 602782 HP:0000969 Edema OMIM:612391 OMIM:612391 Moved To 602782 HP:0000998 Hypertrichosis OMIM:612391 OMIM:612391 Moved To 602782 HP:0001629 Ventricular septal defect OMIM:612391 OMIM:612391 Moved To 602782 HP:0001631 Defect in the atrial septum OMIM:612391 OMIM:612391 Moved To 602782 HP:0001634 Mitral valve prolapse OMIM:612391 OMIM:612391 Moved To 602782 HP:0001640 Cardiomegaly OMIM:612391 OMIM:612391 Moved To 602782 HP:0001744 Splenomegaly OMIM:612391 OMIM:612391 Moved To 602782 HP:0002240 Hepatomegaly OMIM:612391 OMIM:612391 Moved To 602782 HP:0004322 Short stature OMIM:612391 OMIM:612391 Moved To 602782 HP:0009698 Contractures of the proximal interphalangeal joints of the fingers OMIM:612391 OMIM:612443 Moved To 612319 HP:0000007 Autosomal recessive inheritance OMIM:612443 OMIM:612443 Moved To 612319 HP:0001260 Dysarthria OMIM:612443 OMIM:612443 Moved To 612319 HP:0001268 Mental deterioration OMIM:612443 OMIM:612443 Moved To 612319 HP:0001272 Cerebellar atrophy OMIM:612443 OMIM:612443 Moved To 612319 HP:0001288 Gait disturbance OMIM:612443 OMIM:612443 Moved To 612319 HP:0001310 Dysmetria OMIM:612443 OMIM:612443 Moved To 612319 HP:0001332 Dystonia OMIM:612443 OMIM:612443 Moved To 612319 HP:0002075 Dysdiadochokinesis OMIM:612443 OMIM:612443 Moved To 612319 HP:0002313 Spastic paraparesis OMIM:612443 OMIM:612443 Moved To 612319 HP:0002415 Leukodystrophy OMIM:612443 OMIM:612443 Moved To 612319 HP:0003487 Babinski sign OMIM:612443 OMIM:612443 Moved To 612319 HP:0003812 Phenotypic variability OMIM:612443 OMIM:613034 Moved To 612541 HP:0001903 Anemia OMIM:613034 OMIM:612652 Moved To 219150 HP:0000007 Autosomal recessive inheritance OMIM:612652 OMIM:612652 Moved To 219150 HP:0000252 Microcephaly OMIM:612652 OMIM:612652 Moved To 219150 HP:0000518 Cataract OMIM:612652 OMIM:612652 Moved To 219150 HP:0000973 Cutis laxa OMIM:612652 OMIM:612652 Moved To 219150 HP:0001249 Intellectual disability OMIM:612652 OMIM:612652 Moved To 219150 HP:0001252 Muscular hypotonia OMIM:612652 OMIM:612652 Moved To 219150 HP:0001347 Hyperreflexia OMIM:612652 OMIM:612652 Moved To 219150 HP:0001373 Joint dislocation OMIM:612652 OMIM:612652 Moved To 219150 HP:0001388 Joint laxity OMIM:612652 OMIM:612652 Moved To 219150 HP:0001508 Failure to thrive OMIM:612652 OMIM:612652 Moved To 219150 HP:0001987 Hyperammonemia OMIM:612652 OMIM:612652 Moved To 219150 HP:0002305 Athetosis OMIM:612652 OMIM:612652 Moved To 219150 HP:0002650 Scoliosis OMIM:612652 OMIM:612652 Moved To 219150 HP:0003693 Distal amyotrophy OMIM:612652 OMIM:612652 Moved To 219150 HP:0004322 Short stature OMIM:612652 OMIM:612652 Moved To 219150 HP:0006957 Loss of ability to walk OMIM:612652 OMIM:613034 Moved To 612541 HP:0000768 Pectus carinatum OMIM:613034 OMIM:613034 Moved To 612541 HP:0000778 Hypoplasia of the thymus OMIM:613034 OMIM:613034 Moved To 612541 HP:0000822 Hypertension OMIM:613034 OMIM:613020 Moved To 116600 HP:0000006 Autosomal dominant inheritance pmid:19005574 OMIM:613020 Moved To 116600 HP:0001115 Posterior polar cataract pmid:19005574 OMIM:613020 Moved To 116600 HP:0100019 Cortical cataract pmid:19649315 OMIM:613034 Moved To 612541 HP:0001631 Defect in the atrial septum OMIM:613034 OMIM:613034 Moved To 612541 HP:0001873 Thrombocytopenia OMIM:613034 OMIM:613034 Moved To 612541 HP:0000007 Autosomal recessive inheritance OMIM:613034 OMIM:613034 Moved To 612541 HP:0000028 Cryptorchidism OMIM:613034 OMIM:613034 Moved To 612541 HP:0000218 High palate OMIM:613034 OMIM:613034 Moved To 612541 HP:0000431 Wide nasal bridge OMIM:613034 OMIM:613971 Moved To 245570 HP:0000006 Autosomal dominant inheritance OMIM:613971 OMIM:613971 Moved To 245570 HP:0000252 Microcephaly OMIM:613971 OMIM:613971 Moved To 245570 HP:0001249 Intellectual disability OMIM:613971 OMIM:613971 Moved To 245570 HP:0002123 Generalized myoclonic seizures OMIM:613971 OMIM:613971 Moved To 245570 HP:0002373 Febrile seizures OMIM:613971 OMIM:613971 Moved To 245570 HP:0003828 Variable expressivity OMIM:613971 OMIM:614421 Moved To 277590 HP:0000343 Long philtrum OMIM:614421 OMIM:614421 Moved To 277590 HP:0000316 Hypertelorism OMIM:614421 OMIM:614421 Moved To 277590 HP:0000006 Autosomal dominant inheritance OMIM:614421 OMIM:614421 Moved To 277590 HP:0000256 Macrocephaly OMIM:614421 OMIM:614421 Moved To 277590 HP:0000278 Retrognathia OMIM:614421 OMIM:614421 Moved To 277590 HP:0000306 Abnormality of the chin OMIM:614421 OMIM:614421 Moved To 277590 HP:0000400 Macrotia OMIM:614421 OMIM:614421 Moved To 277590 HP:0000494 Downslanted palpebral fissures OMIM:614421 OMIM:614421 Moved To 277590 HP:0000973 Cutis laxa OMIM:614421 OMIM:614421 Moved To 277590 HP:0001256 Intellectual disability, mild OMIM:614421 OMIM:614421 Moved To 277590 HP:0001537 Umbilical hernia OMIM:614421 OMIM:614421 Moved To 277590 HP:0001548 Overgrowth OMIM:614421 OMIM:614421 Moved To 277590 HP:0001814 Deep-set nails OMIM:614421 OMIM:614421 Moved To 277590 HP:0001816 Thin nail OMIM:614421 OMIM:614421 Moved To 277590 HP:0002650 Scoliosis OMIM:614421 OMIM:614421 Moved To 277590 HP:0005469 Flat occiput OMIM:614421 OMIM:614421 Moved To 277590 HP:0007481 Hyperpigmented nevi OMIM:614421 OMIM:614421 Moved To 277590 HP:0011298 Prominent digit pad OMIM:614421 OMIM:614421 Moved To 277590 HP:0011304 Broad thumb OMIM:614421 OMIM:614540 Moved To 213600 HP:0000006 Autosomal dominant inheritance OMIM:614540 OMIM:614540 Moved To 213600 HP:0001249 Intellectual disability OMIM:614540 OMIM:614540 Moved To 213600 HP:0001251 Ataxia OMIM:614540 OMIM:614540 Moved To 213600 HP:0001260 Dysarthria OMIM:614540 OMIM:614540 Moved To 213600 HP:0001300 Parkinsonism OMIM:614540 OMIM:614540 Moved To 213600 HP:0002315 Headache OMIM:614540 OMIM:615087 Moved To 613091 HP:0000007 Autosomal recessive inheritance OMIM:615087 OMIM:615087 Moved To 613091 HP:0000054 Micropenis OMIM:615087 OMIM:615087 Moved To 613091 HP:0000105 Enlarged kidneys OMIM:615087 OMIM:615087 Moved To 613091 HP:0000110 Renal dysplasia OMIM:615087 OMIM:615087 Moved To 613091 HP:0000113 Polycystic kidney dysplasia OMIM:615087 OMIM:615087 Moved To 613091 HP:0000175 Cleft palate OMIM:615087 OMIM:615087 Moved To 613091 HP:0000204 Cleft upper lip OMIM:615087 OMIM:615087 Moved To 613091 HP:0000248 Brachycephaly OMIM:615087 OMIM:615087 Moved To 613091 HP:0000278 Retrognathia OMIM:615087 OMIM:615087 Moved To 613091 HP:0000316 Hypertelorism OMIM:615087 OMIM:615087 Moved To 613091 HP:0000773 Short ribs OMIM:615087 OMIM:615087 Moved To 613091 HP:0000774 Narrow chest OMIM:615087 OMIM:615087 Moved To 613091 HP:0001274 Agenesis of corpus callosum OMIM:615087 OMIM:615087 Moved To 613091 HP:0001762 Talipes equinovarus OMIM:615087 OMIM:615087 Moved To 613091 HP:0002023 Anal atresia OMIM:615087 OMIM:615087 Moved To 613091 HP:0002350 Cerebellar cyst OMIM:615087 OMIM:615087 Moved To 613091 HP:0002566 Intestinal malrotation OMIM:615087 OMIM:615087 Moved To 613091 HP:0003022 Hypoplasia of the ulna OMIM:615087 OMIM:615087 Moved To 613091 HP:0003038 Fibular hypoplasia OMIM:615087 OMIM:615087 Moved To 613091 HP:0010297 Bifid tongue OMIM:615087 OMIM:615087 Moved To 613091 HP:0010306 Short thorax OMIM:615087 OMIM:615087 Moved To 613091 HP:0100259 Postaxial polydactyly OMIM:615087 OMIM:615141 Moved To 177700 HP:0000006 Autosomal dominant inheritance OMIM:615141 OMIM:615141 Moved To 177700 HP:0001123 Visual field defect OMIM:615141

nlwashington commented 10 years ago

sorry. that was terrible. (note the above is what happens when you include an attachment in an email reply. clearly, don't do that.)

nlwashington commented 10 years ago

For this particular entry, i still see:

Moved To 246560

However, I believe this is an upstream data issue, and not an interface issue; closing this ticket.

nlwashington commented 10 years ago

See data issue https://support.crbs.ucsd.edu/browse/LAMHDI-363

pnrobinson commented 10 years ago

Hi Nicole,

recently I cleaned up the "moved" records. Unless there are new moved records, you should not be seeing any if you have the latest files.

-Peter

Dr. med. Peter N. Robinson, MSc. Professor of Medical Genomics Professor in the Bioinformatics Division of the Department of Mathematics and Computer Science of the Freie Universität Berlin Institut für Medizinische Genetik und Humangenetik Charité - Universitätsmedizin Berlin Augustenburger Platz 1 13353 Berlin Germany +4930 450566006 Mobile: 0160 93769872 peter.robinson@charite.de http://compbio.charite.de http://www.human-phenotype-ontology.org Introduction to Bio-Ontologies: http://www.crcpress.com/product/isbn/9781439836651 I have learned from my mistakes, and I am sure I can repeat them exactly ORCID ID:http://orcid.org/0000-0002-0736-9199 Scopus Author ID 7403719646 Appointment request: http://doodle.com/pnrobinson

Von: Nicole Washington [notifications@github.com] Gesendet: Montag, 9. Juni 2014 18:49 An: monarch-initiative/monarch-app Cc: Robinson, Peter Betreff: Re: [monarch-app] Moved OMIM records should show metadata or get user to right place (#314)

See data issue https://support.crbs.ucsd.edu/browse/LAMHDI-363

— Reply to this email directly or view it on GitHubhttps://github.com/monarch-initiative/monarch-app/issues/314#issuecomment-45513772.