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Remove UMLS and SNOMED crossrefs - #11730

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rm-umls
Sep 1, 2026
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Remove UMLS and SNOMED crossrefs#11730
pnrobinson merged 3 commits into
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rm-umls

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@matentzn

@matentzn matentzn commented Sep 1, 2026

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This PR removes the UMLS and SNOMED xrefs from HPO which have been stale for a while.

Please refer to this page for HPO mappings:

https://obophenotype.github.io/human-phenotype-ontology/developers/mappings/

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github-actions Bot commented Sep 1, 2026 •
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Mappings removed: 17385
Subject Predicate Object
Hyperinsulinemic hypoglycemia (HP:0000825) oio:hasDbXref UMLS:C1864903
Metopic synostosis (HP:0011330) oio:hasDbXref UMLS:C1860819
Vitiligo (HP:0001045) oio:hasDbXref SNOMEDCT_US:56727007
Chronic rhinitis (HP:0002257) oio:hasDbXref UMLS:C0008711
Abnormality of globe size (HP:0100887) oio:hasDbXref UMLS:C4021945
Irregular olecranon (HP:0004034) oio:hasDbXref UMLS:C4025428
Biliary tract neoplasm (HP:0100574) oio:hasDbXref SNOMEDCT_US:126853008
Shoulder dystocia (HP:0011413) oio:hasDbXref SNOMEDCT_US:89700002
Generalized non-motor (absence) seizure (HP:0002121) oio:hasDbXref SNOMEDCT_US:50866000
Neuroblastoma (HP:0003006) oio:hasDbXref UMLS:C0027819
Increased spinal bone density (HP:0004563) oio:hasDbXref UMLS:C4280514
Osteolytic defects of the phalanges of the 4th finger (HP:0004195) oio:hasDbXref UMLS:C4025409
Absent glenoid fossa (HP:0006591) oio:hasDbXref UMLS:C4021589
Ocular anterior segment dysgenesis (HP:0007700) oio:hasDbXref UMLS:C0266525
Decreased corneal sensation (HP:0012155) oio:hasDbXref UMLS:C0859996
Cerebral vasculitis (HP:0005318) oio:hasDbXref SNOMEDCT_US:427020007
Caudate atrophy (HP:0002340) oio:hasDbXref UMLS:C1858116
Vascular tortuosity (HP:0004948) oio:hasDbXref UMLS:C2673776
Index finger dermatoglyphic radial loop (HP:0007566) oio:hasDbXref UMLS:C4024845
Impaired touch localization (HP:0011811) oio:hasDbXref UMLS:C4021120
Avascular necrosis (HP:0010885) oio:hasDbXref UMLS:C0877326
Absent tibia (HP:0009556) oio:hasDbXref UMLS:C3276744
Hemeralopia (HP:0012047) oio:hasDbXref UMLS:C0018975
Supranuclear gaze palsy (HP:0000605) oio:hasDbXref UMLS:C1720037
Peromelia (HP:0009828) oio:hasDbXref UMLS:C4024192
Minicore myopathy (HP:0003789) oio:hasDbXref UMLS:C1850674
Histiocytosis (HP:0100727) oio:hasDbXref SNOMEDCT_US:65396000
Congenital talipes calcaneovalgus (HP:0005850) oio:hasDbXref SNOMEDCT_US:205083002
Lipemia retinalis (HP:0000660) oio:hasDbXref SNOMEDCT_US:95692001
Malignant eosinophil proliferation (HP:0006782) oio:hasDbXref UMLS:C1851585
Reduced plasminogen activator inhibitor 1 activity (HP:0040248) oio:hasDbXref UMLS:C4280700
Multiple carpal ossification centers (HP:0006067) oio:hasDbXref UMLS:C1835573
Hypoglycosylation of alpha-dystroglycan (HP:0030046) oio:hasDbXref UMLS:C4015098
Intellectual disability (HP:0001249) oio:hasDbXref UMLS:C4020876
Abnormal hip bone morphology (HP:0003272) oio:hasDbXref UMLS:C4021735
Wide ulnar metaphysis (HP:0004047) oio:hasDbXref UMLS:C4021687
Incoordination (HP:0002311) oio:hasDbXref SNOMEDCT_US:281016006
Orthostatic tachycardia (HP:0012173) oio:hasDbXref UMLS:C4021099
T cell chronic lymphocytic lymphoma/leukemia (HP:0005539) oio:hasDbXref UMLS:C4025181
Absent muscle fiber delta sarcoglycan (HP:0030110) oio:hasDbXref UMLS:C4022635
Absent internal auditory canal (HP:0011385) oio:hasDbXref UMLS:C4023384
Microglossia (HP:0000171) oio:hasDbXref UMLS:C0025988
Small epiphyses of the middle phalanges of the hand (HP:0010265) oio:hasDbXref UMLS:C4023936
Hyperglycinuria (HP:0003108) oio:hasDbXref UMLS:C0543541
Agenesis of primary mandibular lateral incisor (HP:0200159) oio:hasDbXref UMLS:C4021878
Impaired visually enhanced vestibulo-ocular reflex (HP:0030183) oio:hasDbXref UMLS:C4021047
Narrow joint spaces of the elbow (HP:0003944) oio:hasDbXref UMLS:C4025490
Calf muscle hypoplasia (HP:0008962) oio:hasDbXref UMLS:C3805450
Cutaneous mastocytosis (HP:0200151) oio:hasDbXref UMLS:C1136033
Abnormality of the fifth metatarsal bone (HP:0008089) oio:hasDbXref UMLS:C4024733
Odontogenic neoplasm (HP:0100612) oio:hasDbXref SNOMEDCT_US:127578009
Unaided visual acuity 0.5 LogMAR (HP:0030540) oio:hasDbXref UMLS:C4073014
Single ventricle of indeterminate morphology (HP:0011680) oio:hasDbXref UMLS:C4023233
Reduced arm span (HP:0012770) oio:hasDbXref UMLS:C4022730
Dilatation of celiac artery (HP:0100858) oio:hasDbXref UMLS:C0264969
Large posterior fontanelle (HP:0004491) oio:hasDbXref UMLS:C1855233
Hemimacroglossia (HP:0100875) oio:hasDbXref UMLS:C4021947
Cranial hyperostosis (HP:0004437) oio:hasDbXref UMLS:C4280530
Lobular carcinoma in situ (HP:0030076) oio:hasDbXref UMLS:C0279563
Abnormal renal corticomedullary differentiation (HP:0005932) oio:hasDbXref UMLS:C4025102
Aplasia cutis congenita (HP:0001057) oio:hasDbXref SNOMEDCT_US:74223008
Unilateral conductive hearing impairment (HP:0040119) oio:hasDbXref UMLS:C4022428
Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173) oio:hasDbXref UMLS:C4023987
Lymphoid leukemia (HP:0005526) oio:hasDbXref SNOMEDCT_US:188725004
Reduced muscle fiber alpha dystroglycan (HP:0030099) oio:hasDbXref UMLS:C4022646
Abnormal circulating threonine concentration (HP:0010900) oio:hasDbXref UMLS:C4023666
Sarcoma (HP:0100242) oio:hasDbXref SNOMEDCT_US:424952003
Wide radioulnar joints (HP:0003973) oio:hasDbXref UMLS:C4021699
Leukocoria (HP:0000555) oio:hasDbXref SNOMEDCT_US:1361009
Preauricular hair displacement (HP:0009554) oio:hasDbXref UMLS:C4024296
Fetal fifth finger clinodactyly (HP:0011431) oio:hasDbXref UMLS:C4280326
Vein of Galen aneurysmal malformation (HP:0030713) oio:hasDbXref UMLS:C0431420
Reduced circulating vitamin B6 circulating (HP:0008326) oio:hasDbXref UMLS:C0936215
Deviation of the thumb (HP:0009603) oio:hasDbXref UMLS:C3552414
Hemorrhagic ovarian cyst (HP:0012886) oio:hasDbXref UMLS:C0473311
Astigmatism (HP:0000483) oio:hasDbXref UMLS:C0004106
Nevus of Ota (HP:0009920) oio:hasDbXref UMLS:C0027961
Parkinsonism (HP:0001300) oio:hasDbXref UMLS:C0242422
Decreased circulating folate concentration (HP:0100507) oio:hasDbXref UMLS:C0016412
Dumbbell-shaped humerus (HP:0005009) oio:hasDbXref UMLS:C4025259
Cortical nephrocalcinosis (HP:0012409) oio:hasDbXref UMLS:C0403476
Abnormal circulating ornithine concentration (HP:0012025) oio:hasDbXref UMLS:C4023070
Biliary cirrhosis (HP:0002613) oio:hasDbXref UMLS:C0008312
Absent fourth finger distal interphalangeal crease (HP:0005780) oio:hasDbXref UMLS:C4021621
Round face (HP:0000311) oio:hasDbXref UMLS:C0239479
Thickened superior cerebellar peduncle (HP:0002404) oio:hasDbXref UMLS:C4021756
Loss of Purkinje cells in the cerebellar vermis (HP:0007001) oio:hasDbXref UMLS:C1849146
Osseous finger syndactyly (HP:0010492) oio:hasDbXref SNOMEDCT_US:2560006
Limited hip movement (HP:0008800) oio:hasDbXref UMLS:C1851542
J wave (HP:0012272) oio:hasDbXref UMLS:C4018858
Mucinous histiocytosis (HP:0040138) oio:hasDbXref UMLS:C0334126
Abnormal ischium morphology (HP:0003174) oio:hasDbXref UMLS:C0685661
Abnormal muscle fiber dysferlin (HP:0030113) oio:hasDbXref UMLS:C4022632
Recurrent pancreatitis (HP:0100027) oio:hasDbXref SNOMEDCT_US:235494005
Alopecia (HP:0001596) oio:hasDbXref UMLS:C0002170
Rudimentary postaxial polydactyly of hands (HP:0005676) oio:hasDbXref UMLS:C4025158
Aplasia/Hypoplasia involving bones of the thorax (HP:0006711) oio:hasDbXref UMLS:C4024992
Anterior plagiocephaly (HP:0011326) oio:hasDbXref UMLS:C4280329
Few cafe-au-lait spots (HP:0007429) oio:hasDbXref UMLS:C4024881
Frank breech presentation (HP:0010859) oio:hasDbXref SNOMEDCT_US:18559007
Autoimmune neutropenia (HP:0001904) oio:hasDbXref SNOMEDCT_US:234425008
Hyperkalemia (HP:0002153) oio:hasDbXref SNOMEDCT_US:238142003
Abnormality of the nose (HP:0000366) oio:hasDbXref SNOMEDCT_US:72089000
Gastroparesis (HP:0002578) oio:hasDbXref SNOMEDCT_US:235675006
Abnormal brainstem white matter morphology (HP:0012501) oio:hasDbXref UMLS:C4022876
Temporal cortical atrophy (HP:0007112) oio:hasDbXref UMLS:C4024936
Short thumb (HP:0009778) oio:hasDbXref UMLS:C0431890
Absent mesencephalon (HP:0007265) oio:hasDbXref UMLS:C4024913
Anterior open-bite malocclusion (HP:0009102) oio:hasDbXref UMLS:C4024598
Progressive pulmonary function impairment (HP:0006520) oio:hasDbXref UMLS:C1849570
Short lingual frenulum (HP:0000200) oio:hasDbXref UMLS:C4280673
Abnormal cerebral white matter morphology (HP:0002500) oio:hasDbXref UMLS:C4020851
Fused lumbar vertebrae (HP:0030040) oio:hasDbXref UMLS:C4022663
Growth delay (HP:0001510) oio:hasDbXref UMLS:C1837385
Hydrocele testis (HP:0000034) oio:hasDbXref SNOMEDCT_US:386152007
Oliguria (HP:0100520) oio:hasDbXref SNOMEDCT_US:718403007
Slender long bone (HP:0003100) oio:hasDbXref UMLS:C1833144
Small forehead (HP:0000350) oio:hasDbXref UMLS:C4280633
Absent urinary urothione (HP:0003606) oio:hasDbXref UMLS:C4025591
Abnormal retinal morphology (HP:0000479) oio:hasDbXref SNOMEDCT_US:29555009
Intermediate uveitis (HP:0012124) oio:hasDbXref UMLS:C0042166
Periapical bone loss (HP:0000700) oio:hasDbXref UMLS:C1852169
Reversible renal failure (HP:0004713) oio:hasDbXref UMLS:C1843276
EEG with central focal spike waves (HP:0012009) oio:hasDbXref UMLS:C4023082
Increased urinary thiosulfate (HP:0011943) oio:hasDbXref UMLS:C3148695
Juvenile gastrointestinal polyposis (HP:0004784) oio:hasDbXref UMLS:C4025294
Distally placed thumb (HP:0009622) oio:hasDbXref UMLS:C4024270
Multiple rib fractures (HP:0006640) oio:hasDbXref SNOMEDCT_US:1261007
Ciliary body melanoma (HP:0012055) oio:hasDbXref SNOMEDCT_US:255015006
Abnormal leukocyte count (HP:0011893) oio:hasDbXref UMLS:C0580531
Supratentorial neoplasm (HP:0030693) oio:hasDbXref UMLS:C0038874
Bullet-shaped middle phalanx of the 2nd toe (HP:0010406) oio:hasDbXref UMLS:C4023849
Abnormality of the lymphatic system (HP:0100763) oio:hasDbXref SNOMEDCT_US:362971004
Thumbs hypoplastic with bulbous tips (HP:0005726) oio:hasDbXref UMLS:C4025146
Fibular deviation of the 4th toe (HP:0100340) oio:hasDbXref UMLS:C4022140
Lumbar hypertrichosis (HP:0011913) oio:hasDbXref UMLS:C4023130
Uterine leiomyoma (HP:0000131) oio:hasDbXref SNOMEDCT_US:146801000119103
Congenital diaphragmatic hernia (HP:0000776) oio:hasDbXref UMLS:C0235833
Fallopian tube duplication (HP:0012885) oio:hasDbXref UMLS:C0266375
Aciduria (HP:0012072) oio:hasDbXref SNOMEDCT_US:21806007
Nail dystrophy (HP:0008404) oio:hasDbXref UMLS:C0221260
Firm muscles (HP:0003725) oio:hasDbXref UMLS:C1850656
Recurrent systemic pyogenic infections (HP:0005429) oio:hasDbXref UMLS:C4025196
Right ventricular hypertrophy (HP:0001667) oio:hasDbXref SNOMEDCT_US:89792004
Cone-shaped epiphysis of the middle phalanx of the 4th finger (HP:0009216) oio:hasDbXref UMLS:C4024525
Pulmonary granulomatosis (HP:0030250) oio:hasDbXref UMLS:C0856628
Shoulder subluxation (HP:0003835) oio:hasDbXref UMLS:C0434744
Bone marrow hypocellularity (HP:0005528) oio:hasDbXref UMLS:C1855710
Childhood onset (HP:0011463) oio:hasDbXref UMLS:C1837352
Activating thyroid-stimulating hormone receptor defect (HP:0011790) oio:hasDbXref UMLS:C4023188
Retinoblastoma (HP:0009919) oio:hasDbXref SNOMEDCT_US:370967009
Hand muscle atrophy (HP:0009130) oio:hasDbXref UMLS:C0239830
Tarsal synostosis (HP:0008368) oio:hasDbXref UMLS:C0265654
Abnormal circulating insulin-like growth factor 1 concentration (HP:0030352) oio:hasDbXref UMLS:C4072896
Premature atrial contractions (HP:0006699) oio:hasDbXref SNOMEDCT_US:287057009
Paresthesia (HP:0003401) oio:hasDbXref UMLS:C0030554
Hyperphalangy of the 2nd finger (HP:0030368) oio:hasDbXref UMLS:C4072907
Hyperkeratosis (HP:0000962) oio:hasDbXref SNOMEDCT_US:26996000
Amblyopia (HP:0000646) oio:hasDbXref UMLS:C0002418
Calcification of muscles (HP:0100249) oio:hasDbXref UMLS:C2960760
Hypomimic face (HP:0000338) oio:hasDbXref SNOMEDCT_US:248149005
Fasting hyperinsulinemia (HP:0008283) oio:hasDbXref UMLS:C1864954
Dementia (HP:0000726) oio:hasDbXref UMLS:C0497327
Abnormal neutrophil morphology (HP:0011992) oio:hasDbXref UMLS:C4023091
Orotic acid crystalluria (HP:0003526) oio:hasDbXref UMLS:C3278626
Agenesis of incisor (HP:0006485) oio:hasDbXref UMLS:C4020816
Band keratopathy (HP:0000585) oio:hasDbXref SNOMEDCT_US:35055000
Enhancement of the C-reflex (HP:0001340) oio:hasDbXref UMLS:C3552824
Abnormality of the glabella (HP:0002056) oio:hasDbXref UMLS:C4021763
Bifid distal phalanx of the thumb (HP:0009611) oio:hasDbXref UMLS:C1860162
Abnormality of the autonomic nervous system (HP:0002270) oio:hasDbXref UMLS:C4025714
Anemia (HP:0001903) oio:hasDbXref SNOMEDCT_US:271737000
Abnormality of the epiphysis of the proximal phalanx of the 3rd toe (HP:0100093) oio:hasDbXref UMLS:C4022328
Fasciculations (HP:0002380) oio:hasDbXref SNOMEDCT_US:82470000
Hepatic steatosis (HP:0001397) oio:hasDbXref SNOMEDCT_US:197321007
Cervical polyp (HP:0030159) oio:hasDbXref SNOMEDCT_US:65576009
Calcaneonavicular fusion (HP:0008122) oio:hasDbXref UMLS:C4024730
Acute myeloid leukemia (HP:0004808) oio:hasDbXref UMLS:C0023467
Hyperostosis frontalis interna (HP:0004438) oio:hasDbXref UMLS:C0020494
Lymphoproliferative disorder (HP:0005523) oio:hasDbXref SNOMEDCT_US:414629003
Broad proximal phalanx of the thumb (HP:0009630) oio:hasDbXref UMLS:C4024267
Cerebral visual impairment (HP:0100704) oio:hasDbXref UMLS:C4048268
Intra-oral hyperpigmentation (HP:0010284) oio:hasDbXref UMLS:C0877541
Villous atrophy (HP:0011473) oio:hasDbXref SNOMEDCT_US:75581001
Congenital talipes calcaneovalgus (HP:0005850) oio:hasDbXref UMLS:C0152237
Supernumerary vertebrae (HP:0002946) oio:hasDbXref UMLS:C0265681
Best corrected visual acuity 3.0 LogMAR (HP:0030568) oio:hasDbXref UMLS:C4073041
Pigment deposition in the trabecular meshwork (HP:0012631) oio:hasDbXref UMLS:C3805899
Anarthria (HP:0002425) oio:hasDbXref SNOMEDCT_US:48257004
Urethral atresia, male (HP:0000052) oio:hasDbXref UMLS:C4025894
Impaired sensitivity to thyroid hormone (HP:0002930) oio:hasDbXref SNOMEDCT_US:237559000
Short middle phalanx of the 5th finger (HP:0004220) oio:hasDbXref UMLS:C1834060
Premature adrenarche (HP:0012412) oio:hasDbXref UMLS:C0342546
Mitochondrial propionyl-CoA carboxylase defect (HP:0003288) oio:hasDbXref UMLS:C4025634
Abnormal line of Schwalbe morphology (HP:0008048) oio:hasDbXref UMLS:C4021856
Absent foot (HP:0011301) oio:hasDbXref SNOMEDCT_US:371197005
Generalized non-motor (absence) seizure (HP:0002121) oio:hasDbXref SNOMEDCT_US:230413002
Hyperventilation (HP:0002883) oio:hasDbXref UMLS:C0020578
Unexplained fevers (HP:0001955) oio:hasDbXref UMLS:C1844662
Delayed ossification of pubic rami (HP:0008785) oio:hasDbXref UMLS:C1865363
Double outlet right ventricle (HP:0001719) oio:hasDbXref UMLS:C0013069
Acantholysis (HP:0100792) oio:hasDbXref UMLS:C0241128
Aplasia/Hypoplasia of the distal phalanx of the 2nd finger (HP:0009557) oio:hasDbXref UMLS:C4024294
Juvenile myelomonocytic leukemia (HP:0012209) oio:hasDbXref SNOMEDCT_US:128832006
Hyperconvex toenail (HP:0030055) oio:hasDbXref UMLS:C4022661
Complete left sided absence of pericardium (HP:0011633) oio:hasDbXref UMLS:C4023256
Meconium stained amniotic fluid (HP:0012420) oio:hasDbXref SNOMEDCT_US:168092006
Acute tubulointerstitial nephritis (HP:0004729) oio:hasDbXref UMLS:C1843274
Subependymal giant-cell astrocytoma (HP:0009718) oio:hasDbXref SNOMEDCT_US:449799008
Second toe symphalangism (HP:0010353) oio:hasDbXref UMLS:C4023887
Downturned corners of mouth (HP:0002714) oio:hasDbXref UMLS:C1866195
Duodenal stenosis (HP:0100867) oio:hasDbXref UMLS:C1860791
Contracture of the metatarsophalangeal joint of the 2nd toe (HP:0100356) oio:hasDbXref UMLS:C4022129
Nonketotic hyperglycinemia (HP:0008288) oio:hasDbXref UMLS:C0751748
Triangular epiphysis of the middle phalanx of the 5th toe (HP:0100223) oio:hasDbXref UMLS:C4022198
Abnormal oligodendroglia morphology (HP:0100706) oio:hasDbXref UMLS:C4021992
Diffuse palmoplantar hyperkeratosis (HP:0007447) oio:hasDbXref UMLS:C4021575
Low maternal circulating PAPP-A concentration (HP:0011435) oio:hasDbXref UMLS:C4023360
Extramedullary hematopoiesis (HP:0001978) oio:hasDbXref SNOMEDCT_US:124958002
Diffuse cerebellar atrophy (HP:0100275) oio:hasDbXref UMLS:C1854699
Pectoralis major hypoplasia (HP:0008953) oio:hasDbXref UMLS:C1840086
Aphalangy of hands and feet (HP:0200113) oio:hasDbXref UMLS:C4021887
Biliary atresia (HP:0005912) oio:hasDbXref SNOMEDCT_US:82821008
Anemia of inadequate production (HP:0010972) oio:hasDbXref UMLS:C0678199
Hepatocellular carcinoma (HP:0001402) oio:hasDbXref UMLS:C1862761
Anomalous origin of right pulmonary artery from ascending aorta (HP:0005143) oio:hasDbXref SNOMEDCT_US:253634009
Anal margin squamous cell carcinoma (HP:0030442) oio:hasDbXref UMLS:C1412037
Tibial deviation of the 2nd toe (HP:0100345) oio:hasDbXref UMLS:C4022135
Cervical myelopathy (HP:0002318) oio:hasDbXref UMLS:C0149645
Polydactyly affecting the 2nd finger (HP:0009946) oio:hasDbXref UMLS:C4024152
Gonadoblastoma (HP:0000150) oio:hasDbXref SNOMEDCT_US:74751003
Absent respiratory ciliary axoneme radial spokes (HP:0012267) oio:hasDbXref UMLS:C4022981
Abnormality of the spleen (HP:0001743) oio:hasDbXref UMLS:C4025749
Delayed speech and language development (HP:0000750) oio:hasDbXref SNOMEDCT_US:29164008
Gastrointestinal infarctions (HP:0005244) oio:hasDbXref UMLS:C3152231
Orofacial cleft (HP:0000202) oio:hasDbXref UMLS:C4021813
Unilateral oligodactyly (HP:0006230) oio:hasDbXref UMLS:C3805861
Delayed speech and language development (HP:0000750) oio:hasDbXref SNOMEDCT_US:62415009
Small epiphysis of the distal phalanx of the 5th finger (HP:0009148) oio:hasDbXref UMLS:C4024571
Hypoplasia of the maxilla (HP:0000327) oio:hasDbXref UMLS:C4280641
Decreased corneal thickness (HP:0100689) oio:hasDbXref UMLS:C1096274
Shoulder flexion contracture (HP:0003044) oio:hasDbXref SNOMEDCT_US:202265005
Alveolar rhabdomyosarcoma (HP:0006779) oio:hasDbXref UMLS:C0206655
Grade II preterm intraventricular hemorrhage (HP:0030749) oio:hasDbXref UMLS:C4280788
Abnormality of superior crus of antihelix (HP:0011245) oio:hasDbXref UMLS:C4021190
Protanopia (HP:0011522) oio:hasDbXref UMLS:C0155015
Paroxysmal choreoathetosis (HP:0007098) oio:hasDbXref UMLS:C1851936
Osteolytic defects of the phalanges of the hand (HP:0009771) oio:hasDbXref SNOMEDCT_US:27201004
Decreased CSF homovanillic acid concentration (HP:0003785) oio:hasDbXref UMLS:C4280803
Monorchism (HP:0030868) oio:hasDbXref SNOMEDCT_US:87310001
Abnormality of the respiratory system (HP:0002086) oio:hasDbXref UMLS:C4018871
Anterior plagiocephaly (HP:0011326) oio:hasDbXref UMLS:C4023413
Abnormal circulating C-peptide concentration (HP:0030794) oio:hasDbXref UMLS:C4280765
Speech apraxia (HP:0011098) oio:hasDbXref SNOMEDCT_US:361277007
Lower extremity joint dislocation (HP:0030311) oio:hasDbXref UMLS:C4022516
Gingival recession (HP:0030816) oio:hasDbXref UMLS:C0017572
Excessive salivation (HP:0003781) oio:hasDbXref SNOMEDCT_US:275295002
Decreased size of nerve terminals (HP:0003443) oio:hasDbXref UMLS:C4025615
Decreased circulating vitamin K concentration (HP:0011892) oio:hasDbXref SNOMEDCT_US:52675005
Abnormal circulating inorganic divalent cation concentration (HP:0010927) oio:hasDbXref UMLS:C4023648
Irregular epiphysis of the proximal phalanx of the 3rd finger (HP:0009351) oio:hasDbXref UMLS:C4024418
Carnosinuria (HP:0003167) oio:hasDbXref UMLS:C3495558
Subretinal hyporeflective spaces on macular OCT (HP:0030624) oio:hasDbXref UMLS:C4073094
Corneolenticular adhesion (HP:0011485) oio:hasDbXref UMLS:C4023334
Multiple cutaneous malignancies (HP:0007606) oio:hasDbXref UMLS:C4024834
Hyperleucinemia (HP:0010911) oio:hasDbXref SNOMEDCT_US:24013007
Neoplasm of the penis (HP:0100850) oio:hasDbXref SNOMEDCT_US:126896003
B-cell lymphoma (HP:0012191) oio:hasDbXref SNOMEDCT_US:413616009
Abnormal Descemet membrane morphology (HP:0011490) oio:hasDbXref UMLS:C4023330
Leukoencephalopathy (HP:0002352) oio:hasDbXref SNOMEDCT_US:22811006
Cholestasis (HP:0001396) oio:hasDbXref SNOMEDCT_US:30144000
Irregularly spaced teeth (HP:0006316) oio:hasDbXref UMLS:C1845878
Conical incisor (HP:0011065) oio:hasDbXref UMLS:C4280342
Arrhythmia (HP:0011675) oio:hasDbXref SNOMEDCT_US:102594003
Broad 1st metacarpal (HP:0010027) oio:hasDbXref UMLS:C4024097
Flared elbow metaphyses (HP:0003950) oio:hasDbXref UMLS:C4025484
Intra-oral hyperpigmentation (HP:0010284) oio:hasDbXref UMLS:C4280388
Dyspnea (HP:0002094) oio:hasDbXref SNOMEDCT_US:230145002
Abnormal timing of light-adapted single flash electroretinogram (HP:0030482) oio:hasDbXref UMLS:C4072972
Abnormal axial skeleton morphology (HP:0009121) oio:hasDbXref UMLS:C4020785
Follicular hyperkeratosis (HP:0007502) oio:hasDbXref UMLS:C0334013
Mandibular condyle aplasia (HP:0007627) oio:hasDbXref UMLS:C4280431
Enamel hypoplasia (HP:0006297) oio:hasDbXref UMLS:C1851854
Reduced xanthine dehydrogenase level (HP:0003534) oio:hasDbXref UMLS:C4025600
Metamorphopsia (HP:0012508) oio:hasDbXref UMLS:C0271185
Elevated circulating calcitonin concentration (HP:0003528) oio:hasDbXref UMLS:C1868394
Aplasia of facial bones (HP:0040008) oio:hasDbXref UMLS:C4280301
Iridocyclitis (HP:0001094) oio:hasDbXref UMLS:C0022073
Myocardial steatosis (HP:0006693) oio:hasDbXref UMLS:C4025000
Tibial torsion (HP:0100694) oio:hasDbXref SNOMEDCT_US:249785006
Abnormality of acid-base homeostasis (HP:0004360) oio:hasDbXref UMLS:C0001118
Hamartomatous stomach polyps (HP:0004795) oio:hasDbXref UMLS:C1862304
Abnormal dental morphology (HP:0006482) oio:hasDbXref SNOMEDCT_US:422775003
Abnormal lumbar spine morphology (HP:0100712) oio:hasDbXref UMLS:C4021988
Glial remnants anterior to the optic disc (HP:0030743) oio:hasDbXref UMLS:C4280791
Hemiplegia/hemiparesis (HP:0004374) oio:hasDbXref UMLS:C0375206
Abnormal foveal pit on macular OCT (HP:0030622) oio:hasDbXref UMLS:C4073092
Abnormal manual kinetic perimetry test (HP:0030593) oio:hasDbXref UMLS:C4073065
Generalized amyloid deposition (HP:0003216) oio:hasDbXref UMLS:C1862968
Telecanthus (HP:0000506) oio:hasDbXref UMLS:C0423113
Abnormal synaptic transmission at the neuromuscular junction (HP:0003398) oio:hasDbXref UMLS:C4025618
Decreased circulating IgA concentration (HP:0002720) oio:hasDbXref SNOMEDCT_US:29260007
Abnormal sperm neck morphology (HP:0012866) oio:hasDbXref UMLS:C4022701
Delayed pubic bone ossification (HP:0008788) oio:hasDbXref UMLS:C1861528
Abnormal circulating serine concentration (HP:0012278) oio:hasDbXref UMLS:C4022972
Triangular shaped proximal phalanx of the 2nd finger (HP:0009587) oio:hasDbXref UMLS:C4021432
Elevated circulating 7-dehydrocholesterol concentration (HP:0010569) oio:hasDbXref UMLS:C1849185
Demyelinating peripheral neuropathy (HP:0007108) oio:hasDbXref SNOMEDCT_US:23414001
Hypoperistalsis (HP:0100771) oio:hasDbXref UMLS:C0232475
Mania (HP:0100754) oio:hasDbXref UMLS:C0338831
Quadriceps muscle weakness (HP:0003731) oio:hasDbXref UMLS:C0577655
Lentiglobus (HP:0011527) oio:hasDbXref UMLS:C1622439
Abnormality of lens shape (HP:0011526) oio:hasDbXref UMLS:C4023314
Macular scar (HP:0200056) oio:hasDbXref SNOMEDCT_US:18410006
Long ear (HP:0400004) oio:hasDbXref UMLS:C1848657
Diastasis recti (HP:0001540) oio:hasDbXref SNOMEDCT_US:62629000
Hypomimic face (HP:0000338) oio:hasDbXref UMLS:C4280635
Overhanging nasal tip (HP:0011833) oio:hasDbXref SNOMEDCT_US:249328007
Single trichilemmoma (HP:0012845) oio:hasDbXref UMLS:C4022710
Corneal opacity (HP:0007957) oio:hasDbXref SNOMEDCT_US:64634000
Chronic leukemia (HP:0005558) oio:hasDbXref SNOMEDCT_US:128933000
Erythroderma (HP:0001019) oio:hasDbXref SNOMEDCT_US:396349005
Cognitive impairment (HP:0100543) oio:hasDbXref UMLS:C0338656
Eye of the tiger anomaly of globus pallidus (HP:0002454) oio:hasDbXref UMLS:C4025705
Hyperphenylalaninemia (HP:0004923) oio:hasDbXref UMLS:C0751435
Brittle hair (HP:0002299) oio:hasDbXref UMLS:C4072837
Abnormality of the thoracic cavity (HP:0045027) oio:hasDbXref UMLS:C4022394
Focal absence of the external ear (HP:0400003) oio:hasDbXref UMLS:C4021874
Bilateral sensorineural hearing impairment (HP:0008619) oio:hasDbXref SNOMEDCT_US:194424005
Deviation of toes (HP:0100498) oio:hasDbXref UMLS:C4022039
Pericarditis (HP:0001701) oio:hasDbXref UMLS:C0031046
Intracranial internal carotid artery dissection (HP:0012160) oio:hasDbXref UMLS:C4023017
Poor appetite (HP:0004396) oio:hasDbXref SNOMEDCT_US:64379006
Prolinuria (HP:0003137) oio:hasDbXref UMLS:C0268534
Superficial thrombophlebitis (HP:0002638) oio:hasDbXref UMLS:C1510431
Neoplasm of the liver (HP:0002896) oio:hasDbXref UMLS:C0345904
Tremor (HP:0001337) oio:hasDbXref UMLS:C0040822
Abnormal pulse pressure (HP:0030850) oio:hasDbXref UMLS:C0855322
Irregular epiphysis of the proximal phalanx of the 4th finger (HP:0009266) oio:hasDbXref UMLS:C4024483
Otosclerosis (HP:0000362) oio:hasDbXref UMLS:C0029899
Wormian bones (HP:0002645) oio:hasDbXref SNOMEDCT_US:113194005
Duplication of the middle phalanx of the 4th finger (HP:0009976) oio:hasDbXref UMLS:C4021357
Broad ischia (HP:0100865) oio:hasDbXref UMLS:C1836868
Mitochondrial myopathy (HP:0003737) oio:hasDbXref SNOMEDCT_US:16851005
Lipogranulomatosis (HP:0040139) oio:hasDbXref SNOMEDCT_US:416439000
Reduced muscle fiber dysferlin (HP:0030115) oio:hasDbXref UMLS:C4022630
Renal amyloidosis (HP:0001917) oio:hasDbXref SNOMEDCT_US:48713002
Abnormal transitional B cell proportion (HP:0030379) oio:hasDbXref UMLS:C4072918
Angioedema (HP:0100665) oio:hasDbXref UMLS:C0002994
Deformed rib cage (HP:0000886) oio:hasDbXref UMLS:C1838659
Lower lip pit (HP:0000196) oio:hasDbXref UMLS:C1861544
Sacral meningocele (HP:0005765) oio:hasDbXref SNOMEDCT_US:95478002
Rectal prolapse (HP:0002035) oio:hasDbXref UMLS:C0034888
Hypoplastic iris stroma (HP:0007990) oio:hasDbXref UMLS:C1860344
Presacral teratoma (HP:0009793) oio:hasDbXref UMLS:C1867782
Chronic pancreatitis (HP:0006280) oio:hasDbXref SNOMEDCT_US:233870001
Medullary thyroid carcinoma (HP:0002865) oio:hasDbXref UMLS:C0238462
Limb apraxia (HP:0030217) oio:hasDbXref UMLS:C4022574
Bruxism (HP:0003763) oio:hasDbXref SNOMEDCT_US:90207007
Small trapezium (HP:0004255) oio:hasDbXref UMLS:C4025389
Alexia (HP:0010523) oio:hasDbXref UMLS:C0002018
Fractured radius (HP:0003978) oio:hasDbXref UMLS:C0034628
Woolly scalp hair (HP:0040149) oio:hasDbXref UMLS:C4015203
Dysplastic granulopoesis (HP:0012136) oio:hasDbXref UMLS:C4023030
Flexural lichenification (HP:0007453) oio:hasDbXref UMLS:C4024873
Abnormality of the dentition (HP:0000164) oio:hasDbXref UMLS:C0262444
Hyperglutaminemia (HP:0003217) oio:hasDbXref UMLS:C1839533
Decreased circulating complement C4 concentration (HP:0045042) oio:hasDbXref UMLS:C4073169
Cyst of the eyelid (HP:0010604) oio:hasDbXref SNOMEDCT_US:248514008
Broad columella (HP:0010761) oio:hasDbXref UMLS:C4280365
Abnormal midface morphology (HP:0000309) oio:hasDbXref UMLS:C4021811
Motor polyneuropathy (HP:0007178) oio:hasDbXref UMLS:C0271683
Hemifacial hypoplasia (HP:0011332) oio:hasDbXref UMLS:C4023411
Best corrected visual acuity 0.4 LogMAR (HP:0030557) oio:hasDbXref UMLS:C4073030
Eclampsia (HP:0100601) oio:hasDbXref UMLS:C0013537
Complex febrile seizure (HP:0011172) oio:hasDbXref SNOMEDCT_US:433083002
Chest pain (HP:0100749) oio:hasDbXref UMLS:C0008031
Bilateral wrist flexion contracture (HP:0012453) oio:hasDbXref UMLS:C4022899
Medial deviation of the foot (HP:0008082) oio:hasDbXref UMLS:C2673401
Unguarded tricuspid valve (HP:0030719) oio:hasDbXref UMLS:C0344745
Macrodactyly of finger (HP:0100746) oio:hasDbXref SNOMEDCT_US:297195000
Hypohidrosis (HP:0000966) oio:hasDbXref UMLS:C0020620
Mallet finger (HP:0030771) oio:hasDbXref SNOMEDCT_US:64298006
Short upper eyelashes (HP:0040054) oio:hasDbXref UMLS:C4022464
Onycholysis (HP:0001806) oio:hasDbXref UMLS:C0085661
Macroorchidism (HP:0000053) oio:hasDbXref UMLS:C1263023
Facial tics (HP:0011468) oio:hasDbXref UMLS:C4280324
Inferior pubic ramus hypoplasia (HP:0008823) oio:hasDbXref UMLS:C1853573
Complex palmar dermatoglyphic pattern (HP:0007602) oio:hasDbXref UMLS:C4024835
Paroxysmal nocturnal hemoglobinuria (HP:0004818) oio:hasDbXref UMLS:C0024790
Upbeat nystagmus (HP:0011477) oio:hasDbXref UMLS:C0585545
Neoplasm of the middle ear (HP:0100799) oio:hasDbXref UMLS:C0345617
Petechiae (HP:0000967) oio:hasDbXref SNOMEDCT_US:50091001
Polydactyly affecting the 2nd toe (HP:0010328) oio:hasDbXref UMLS:C4023901
Connective tissue nevi (HP:0100898) oio:hasDbXref SNOMEDCT_US:22858003
Complete breech presentation (HP:0010860) oio:hasDbXref SNOMEDCT_US:49168004
Abnormal epidermal morphology (HP:0011124) oio:hasDbXref UMLS:C4023526
Abnormal parotid gland morphology (HP:0000197) oio:hasDbXref UMLS:C4025880
Pseudoepiphysis of the distal phalanx of the 3rd finger (HP:0009342) oio:hasDbXref UMLS:C4024425
Brain atrophy (HP:0012444) oio:hasDbXref SNOMEDCT_US:418143002
Neoplasm of head and neck (HP:0012288) oio:hasDbXref SNOMEDCT_US:255055008
Increased urinary cortisol level (HP:0012030) oio:hasDbXref UMLS:C4023068
Loss of subcutaneous adipose tissue in limbs (HP:0003635) oio:hasDbXref UMLS:C1837764
Mild (HP:0012825) oio:hasDbXref UMLS:C1513302
Abnormal coronary sinus morphology (HP:0011642) oio:hasDbXref SNOMEDCT_US:253323000
Echolalia (HP:0010529) oio:hasDbXref SNOMEDCT_US:64712007
Tubular metacarpal bones (HP:0006166) oio:hasDbXref UMLS:C1859369
Intestinal pseudo-obstruction (HP:0004389) oio:hasDbXref SNOMEDCT_US:715201005
Sclerotic forearm bones (HP:0003967) oio:hasDbXref UMLS:C4025472
Abnormal circulating folate concentration (HP:0040087) oio:hasDbXref UMLS:C4021037
Congenital blindness (HP:0007875) oio:hasDbXref SNOMEDCT_US:95486002
Cone-shaped epiphysis of the proximal phalanx of the 2nd toe (HP:0100124) oio:hasDbXref UMLS:C4022297
Complete duplication of the phalanges of the 5th finger (HP:0009986) oio:hasDbXref UMLS:C4024128
Aplasia of the middle phalanx of the 5th toe (HP:0100383) oio:hasDbXref UMLS:C4022110
T-wave inversion in the right precordial leads (HP:0003140) oio:hasDbXref UMLS:C4025646
Sick sinus syndrome (HP:0011704) oio:hasDbXref SNOMEDCT_US:36083008
Bifid penis (HP:0100599) oio:hasDbXref UMLS:C0345322
Polycythemia (HP:0001901) oio:hasDbXref UMLS:C0032461
Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger (HP:0009457) oio:hasDbXref UMLS:C4024348
Abnormality of the round window (HP:0040099) oio:hasDbXref UMLS:C4022441
Ankle flexion contracture (HP:0006466) oio:hasDbXref UMLS:C1837407
Dolichocephaly (HP:0000268) oio:hasDbXref UMLS:C4280656
Absent epiphyses of the middle phalanges of the hand (HP:0010257) oio:hasDbXref UMLS:C4023943
Gastric ulcer (HP:0002592) oio:hasDbXref SNOMEDCT_US:397825006
Exaggerated startle response (HP:0002267) oio:hasDbXref UMLS:C1836014
Hypercholesterolemia (HP:0003124) oio:hasDbXref SNOMEDCT_US:166830008
Pericardial effusion (HP:0001698) oio:hasDbXref SNOMEDCT_US:373945007
Abnormal dark-adapted electroretinogram (HP:0030469) oio:hasDbXref UMLS:C4072959
Cleft lower alveolar ridge (HP:0009094) oio:hasDbXref UMLS:C4280406
Enlarged lacrimal glands (HP:0007734) oio:hasDbXref UMLS:C1867030
Salt craving (HP:0030083) oio:hasDbXref UMLS:C0240928
Adrenocortical adenoma (HP:0008256) oio:hasDbXref SNOMEDCT_US:18365006
Osteolytic defects of the phalanges of the 3rd toe (HP:0010363) oio:hasDbXref UMLS:C4021825
Abnormal morphology of myocardial trabeculae (HP:0030681) oio:hasDbXref UMLS:C4073289
Pure red cell aplasia (HP:0012410) oio:hasDbXref SNOMEDCT_US:50715003
Atrophic, patchy alopecia (HP:0004529) oio:hasDbXref UMLS:C4025314
Brisk reflexes (HP:0001348) oio:hasDbXref UMLS:C2673700
Ketotic hypoglycemia (HP:0012734) oio:hasDbXref UMLS:C0271713
Abnormal circulating histidine concentration (HP:0010904) oio:hasDbXref UMLS:C4023662
Unilateral vocal cord paresis (HP:0012821) oio:hasDbXref UMLS:C0751577
Duane anomaly (HP:0009921) oio:hasDbXref SNOMEDCT_US:60318001
Malignant peripheral nerve sheath tumor (HP:0100697) oio:hasDbXref UMLS:C0751690
Schmorl's node (HP:0030041) oio:hasDbXref UMLS:C0410632
Lissencephaly (HP:0001339) oio:hasDbXref SNOMEDCT_US:204036008
Osteolytic defects of the 1st metatarsal (HP:0010071) oio:hasDbXref UMLS:C4024073
Perisylvian polymicrogyria (HP:0012650) oio:hasDbXref UMLS:C3279675
Infantile encephalopathy (HP:0007105) oio:hasDbXref UMLS:C1856408
Somatic sensory dysfunction (HP:0003474) oio:hasDbXref SNOMEDCT_US:398026008
Hypopituitarism (HP:0040075) oio:hasDbXref UMLS:C0020635
Abnormal cementum morphology (HP:0100717) oio:hasDbXref UMLS:C4021987
Prominent antihelix (HP:0000395) oio:hasDbXref UMLS:C1845272
Male infertility (HP:0003251) oio:hasDbXref SNOMEDCT_US:2904007
Parietal encephalocele (HP:0011816) oio:hasDbXref SNOMEDCT_US:253109005
Hypergalactosemia (HP:0012024) oio:hasDbXref UMLS:C4023071
Heterotaxy (HP:0030853) oio:hasDbXref UMLS:C0266642
Atretic occipital cephalocele (HP:0004470) oio:hasDbXref UMLS:C1836600
Hyperphosphaturia (HP:0003109) oio:hasDbXref UMLS:C0268079
Transient global amnesia (HP:0010534) oio:hasDbXref SNOMEDCT_US:230736007
Decreased urinary potassium (HP:0012364) oio:hasDbXref SNOMEDCT_US:54781007
Fatty replacement of skeletal muscle (HP:0012548) oio:hasDbXref UMLS:C4021082
Thyroid follicular adenoma (HP:0011774) oio:hasDbXref UMLS:C0151468
Globe retraction and deviation on abduction (HP:0000497) oio:hasDbXref UMLS:C4025848
Mask-like facies (HP:0000298) oio:hasDbXref SNOMEDCT_US:103606006
Cleft maxillary alveolar ridge (HP:0010289) oio:hasDbXref UMLS:C2919907
Hypoplasia of the zygomatic bone (HP:0010669) oio:hasDbXref UMLS:C4280368
Hypoplasia of the iris (HP:0007676) oio:hasDbXref SNOMEDCT_US:95714006
Metopic synostosis (HP:0011330) oio:hasDbXref UMLS:C0432122
Abnormal scaphoid morphology (HP:0004243) oio:hasDbXref UMLS:C4025397
Reduced visual accommodation (HP:0030801) oio:hasDbXref UMLS:C4280759
Alveolar cell carcinoma (HP:0006519) oio:hasDbXref SNOMEDCT_US:112677002
Streaks of hyperkeratosis along each finger onto the palm (HP:0007501) oio:hasDbXref UMLS:C4024861
Cystic medial necrosis (HP:0012180) oio:hasDbXref SNOMEDCT_US:234021009
Left (HP:0012835) oio:hasDbXref UMLS:C0443246
Large humeral epiphyses (HP:0003898) oio:hasDbXref UMLS:C4025522
Left superior vena cava draining to coronary sinus (HP:0011670) oio:hasDbXref UMLS:C2677768
Acute bronchitis (HP:0012388) oio:hasDbXref SNOMEDCT_US:10509002
Abnormal pia mater (HP:0100701) oio:hasDbXref UMLS:C4021994
Renal hypoplasia (HP:0000089) oio:hasDbXref UMLS:C0266295
Cafe-au-lait spot (HP:0000957) oio:hasDbXref SNOMEDCT_US:51089004
Generalized hyperpigmentation (HP:0007440) oio:hasDbXref UMLS:C4024878
Membranous nephropathy (HP:0012578) oio:hasDbXref SNOMEDCT_US:77182004
Atrioventricular block (HP:0001678) oio:hasDbXref UMLS:C1841659
Prominent glabella (HP:0002057) oio:hasDbXref UMLS:C1860247
Crus of helix connected to antihelix (HP:0011256) oio:hasDbXref UMLS:C4021184
Omphalocele (HP:0001539) oio:hasDbXref UMLS:C0795690
Progressive conductive hearing impairment (HP:0008607) oio:hasDbXref UMLS:C1861325
Gastrostomy tube feeding in infancy (HP:0011471) oio:hasDbXref UMLS:C4023342
Peripheral pulmonary artery stenosis (HP:0004969) oio:hasDbXref SNOMEDCT_US:253631001
1-5 toe syndactyly (HP:0010713) oio:hasDbXref UMLS:C4021235
Renal tubular dysfunction (HP:0000124) oio:hasDbXref UMLS:C0151747
Laryngeal stenosis (HP:0001602) oio:hasDbXref SNOMEDCT_US:75547007
Decreased head circumference (HP:0040195) oio:hasDbXref SNOMEDCT_US:271611007
Abnormal cornea morphology (HP:0000481) oio:hasDbXref UMLS:C4020889
Abnormality of the larynx (HP:0001600) oio:hasDbXref UMLS:C4021777
Bifid sacrum (HP:0009791) oio:hasDbXref UMLS:C4024204
Abnormality of the protein C anticoagulant pathway (HP:0030780) oio:hasDbXref UMLS:C4280774
Mandibular osteomyelitis (HP:0007626) oio:hasDbXref SNOMEDCT_US:109695005
Sleep terror (HP:0030765) oio:hasDbXref UMLS:C0037320
Orbital cyst (HP:0001144) oio:hasDbXref SNOMEDCT_US:31021007
Abnormality of the vasculature of the eye (HP:0008047) oio:hasDbXref UMLS:C4024752
Brachydactyly (HP:0001156) oio:hasDbXref SNOMEDCT_US:43476002
Xanthelasma (HP:0001114) oio:hasDbXref UMLS:C0155210
Inverted nipples (HP:0003186) oio:hasDbXref UMLS:C0269269
Generalized opacification of the cornea (HP:0011494) oio:hasDbXref UMLS:C4021147
Coxa magna (HP:0003279) oio:hasDbXref SNOMEDCT_US:296041000119103
Aplasia of the 5th metacarpal (HP:0010046) oio:hasDbXref UMLS:C1867929
Pituitary carcinoma (HP:0011763) oio:hasDbXref SNOMEDCT_US:254955001
Sudanophilic leukodystrophy (HP:0003269) oio:hasDbXref UMLS:C0205711
Tricuspid atresia (HP:0011662) oio:hasDbXref UMLS:C0243002
Asteroid hyalosis (HP:0030672) oio:hasDbXref SNOMEDCT_US:95800001
Increased scrotal rugation (HP:0012857) oio:hasDbXref UMLS:C4022706
Benign gastrointestinal tract tumors (HP:0006719) oio:hasDbXref UMLS:C0497538
Abnormality of the sense of smell (HP:0004408) oio:hasDbXref UMLS:C4021655
Paroxysmal ventricular tachycardia (HP:0004751) oio:hasDbXref UMLS:C0030591
Metaphyseal chondromatosis of ulna (HP:0030297) oio:hasDbXref UMLS:C4022528
Absent sternal ossification (HP:0006628) oio:hasDbXref UMLS:C4280443
Microdontia (HP:0000691) oio:hasDbXref SNOMEDCT_US:32337007
Decreased platelet glycoprotein VI (HP:0011881) oio:hasDbXref UMLS:C4023148
Fixed facial expression (HP:0005329) oio:hasDbXref UMLS:C1855353
Undetectable visual evoked potentials (HP:0007965) oio:hasDbXref UMLS:C1850069
Selective tooth agenesis (HP:0001592) oio:hasDbXref UMLS:C1970308
Enlarged epiphyses of the 4th toe (HP:0100069) oio:hasDbXref UMLS:C4022352
Perseverative thought (HP:0030223) oio:hasDbXref SNOMEDCT_US:44515000
Nevus (HP:0003764) oio:hasDbXref SNOMEDCT_US:21119008
Thyroid microfollicular adenoma (HP:0011776) oio:hasDbXref UMLS:C4023193
Abnormality of the maxillary sinus (HP:0430023) oio:hasDbXref UMLS:C4073205
Abnormal atrial arrangement (HP:0011535) oio:hasDbXref UMLS:C2959688
Ulnar deviation of the hand (HP:0009487) oio:hasDbXref UMLS:C0241521
Gastric varix (HP:0030169) oio:hasDbXref UMLS:C0017145
Absent vestibular function (HP:0008555) oio:hasDbXref UMLS:C4024656
Hepatic arteriovenous malformation (HP:0006574) oio:hasDbXref SNOMEDCT_US:84150000
Heterotaxy (HP:0030853) oio:hasDbXref SNOMEDCT_US:14821001
Ewing sarcoma (HP:0012254) oio:hasDbXref SNOMEDCT_US:76909002
Spina bifida occulta (HP:0003298) oio:hasDbXref UMLS:C0080174
Abnormal primary molar morphology (HP:0006344) oio:hasDbXref UMLS:C4025059
Telecanthus (HP:0000506) oio:hasDbXref SNOMEDCT_US:246803005
Mesiodens (HP:0011067) oio:hasDbXref SNOMEDCT_US:367534004
Periapical bone loss (HP:0000700) oio:hasDbXref UMLS:C0034543
Duodenal polyposis (HP:0004783) oio:hasDbXref SNOMEDCT_US:301797007
Abnormality of the epiphyses of the hallux (HP:0010056) oio:hasDbXref UMLS:C4024081
Mucoid extracellular matrix accumulation (HP:0200146) oio:hasDbXref UMLS:C0392775
Leukemia (HP:0001909) oio:hasDbXref SNOMEDCT_US:93143009
Nasal congestion (HP:0001742) oio:hasDbXref UMLS:C0027429
Abnormality of bone mineral density (HP:0004348) oio:hasDbXref UMLS:C4021657
Hypokinesia (HP:0002375) oio:hasDbXref UMLS:C0086439
Abnormal ganglion morphology (HP:0410014) oio:hasDbXref UMLS:C4073193
Hemiplegia (HP:0002301) oio:hasDbXref UMLS:C0018991
Junctional ectopic tachycardia (HP:0011716) oio:hasDbXref SNOMEDCT_US:233901002
Lacticaciduria (HP:0003648) oio:hasDbXref UMLS:C4025585
Osteopenia (HP:0000938) oio:hasDbXref SNOMEDCT_US:312894000
Hypolipidemia (HP:0045014) oio:hasDbXref SNOMEDCT_US:238090007
Osteolytic defects of the distal phalanx of the 3rd finger (HP:0009424) oio:hasDbXref UMLS:C4021478
Overriding atrioventricular valve (HP:0011561) oio:hasDbXref UMLS:C4023298
Cone dystrophy (HP:0008020) oio:hasDbXref UMLS:C0730290
Basal cell carcinoma (HP:0002671) oio:hasDbXref SNOMEDCT_US:275265005
Radioulnar dislocation (HP:0006439) oio:hasDbXref UMLS:C2673394
Aortic valve calcification (HP:0004380) oio:hasDbXref UMLS:C0428791
Scintillating scotoma (HP:0010822) oio:hasDbXref UMLS:C0235068
Ectopic accessory finger-like appendage (HP:0010441) oio:hasDbXref UMLS:C4023825
Odontogenic neoplasm (HP:0100612) oio:hasDbXref UMLS:C0028880
Hyperextensible skin of chest (HP:0011930) oio:hasDbXref UMLS:C4021836
Nocturnal hypoventilation (HP:0002877) oio:hasDbXref UMLS:C1843643
Metaphyseal spurs (HP:0005054) oio:hasDbXref UMLS:C1832988
Slowed slurred speech (HP:0007164) oio:hasDbXref UMLS:C4024929
Sex-limited expression (HP:0001470) oio:hasDbXref UMLS:C4025767
Absent toenail (HP:0001802) oio:hasDbXref UMLS:C1844555
Polar cataract (HP:0010696) oio:hasDbXref UMLS:C2025392
Abnormal midbrain morphology (HP:0002418) oio:hasDbXref UMLS:C4021755
Long thorax (HP:0100818) oio:hasDbXref UMLS:C0575484
Subungual hyperkeratosis (HP:0008392) oio:hasDbXref SNOMEDCT_US:10165000
Hypochromic anemia (HP:0001931) oio:hasDbXref SNOMEDCT_US:44452003
Anal fistula (HP:0010447) oio:hasDbXref SNOMEDCT_US:72779005
Abnormal systemic arterial morphology (HP:0011004) oio:hasDbXref UMLS:C0151489
Increased number of skin folds (HP:0007522) oio:hasDbXref UMLS:C4024853
Large fontanelles (HP:0000239) oio:hasDbXref UMLS:C4072822
Short thorax (HP:0010306) oio:hasDbXref UMLS:C0426789
Tongue nodules (HP:0000199) oio:hasDbXref UMLS:C0241438
Preaxial foot polydactyly (HP:0001841) oio:hasDbXref UMLS:C2112942
Insulin resistance (HP:0000855) oio:hasDbXref UMLS:C0021655
Elevated urinary homovanillic acid (HP:0011977) oio:hasDbXref UMLS:C4020736
Vitreous strands (HP:0030832) oio:hasDbXref SNOMEDCT_US:28167005
Thyroiditis (HP:0100646) oio:hasDbXref SNOMEDCT_US:82119001
Diabetes insipidus (HP:0000873) oio:hasDbXref SNOMEDCT_US:15771004
Tertiary hyperparathyroidism (HP:0011770) oio:hasDbXref UMLS:C0271858
Arteriosclerosis of small cerebral arteries (HP:0004931) oio:hasDbXref UMLS:C4025270
Patent ductus arteriosus (HP:0001643) oio:hasDbXref UMLS:C0013274
Univentricular heart with absent left sided atrioventricular connection (HP:0011549) oio:hasDbXref UMLS:C4023305
Dilatation of the sinus of Valsalva (HP:0011645) oio:hasDbXref SNOMEDCT_US:54160000
Aplasia of the distal phalanx of the 2nd finger (HP:0009565) oio:hasDbXref UMLS:C4021439
Reduced circulating catalase activity (HP:0012517) oio:hasDbXref UMLS:C4022869
Pleural empyema (HP:0011919) oio:hasDbXref SNOMEDCT_US:405951008
Hematochezia (HP:0002573) oio:hasDbXref UMLS:C0018932
Patellar dislocation (HP:0002999) oio:hasDbXref UMLS:C1135812
Chiari type I malformation (HP:0007099) oio:hasDbXref UMLS:C0750929
Pain insensitivity (HP:0007021) oio:hasDbXref UMLS:C0344307
Heart murmur (HP:0030148) oio:hasDbXref SNOMEDCT_US:421493004
Pulmonary hemorrhage (HP:0040223) oio:hasDbXref UMLS:C4280720
Abnormal external nose morphology (HP:0010938) oio:hasDbXref UMLS:C4280360
Testicular torsion (HP:0100813) oio:hasDbXref SNOMEDCT_US:49198006
Pinhole visual acuity 1.2 LogMAR (HP:0030580) oio:hasDbXref UMLS:C4073053
Bullet-shaped distal phalanx of the 5th toe (HP:0100442) oio:hasDbXref UMLS:C4022085
Triangular epiphysis of the distal phalanx of the hallux (HP:0010148) oio:hasDbXref UMLS:C4024011
Thyrotoxicosis from ectopic thyroid tissue (HP:0011783) oio:hasDbXref UMLS:C0154148
Osteolytic defects of the distal phalanx of the 2nd finger (HP:0009561) oio:hasDbXref UMLS:C4021441
Abnormal metatarsal epiphysis morphology (HP:0010630) oio:hasDbXref UMLS:C4021248
Punctate opacification of the cornea (HP:0007856) oio:hasDbXref UMLS:C4021565
Keratoconjunctivitis sicca (HP:0001097) oio:hasDbXref SNOMEDCT_US:302896008
Gowers sign (HP:0003391) oio:hasDbXref SNOMEDCT_US:85905009
Diffuse axonal swelling (HP:0003405) oio:hasDbXref UMLS:C1865417
Microcornea (HP:0000482) oio:hasDbXref SNOMEDCT_US:26098002
Redundant skin (HP:0001582) oio:hasDbXref SNOMEDCT_US:201093004
Partial duplication of the distal phalanx of the 2nd finger (HP:0009951) oio:hasDbXref UMLS:C4021365
Abnormal circulating alanine concentration (HP:0010916) oio:hasDbXref UMLS:C4023654
Retinal arteritis (HP:0008030) oio:hasDbXref UMLS:C0271069
Increased pineal volume (HP:0012686) oio:hasDbXref UMLS:C4022779
Kyphosis (HP:0002808) oio:hasDbXref SNOMEDCT_US:414564002
Childhood onset short-limb short stature (HP:0011405) oio:hasDbXref UMLS:C1867487
Elevated hepatic iron concentration (HP:0012465) oio:hasDbXref UMLS:C4022891
Aplasia of the epiglottis (HP:0008753) oio:hasDbXref UMLS:C4024628
Pilonidal sinus (HP:0010769) oio:hasDbXref UMLS:C0031925
Glomerular sclerosis (HP:0000096) oio:hasDbXref SNOMEDCT_US:82646005
Reduced euglobulin clot lysis time (HP:0040247) oio:hasDbXref UMLS:C4280701
Short tubular bones of the hand (HP:0001248) oio:hasDbXref UMLS:C4025795
Glycosuria (HP:0003076) oio:hasDbXref UMLS:C0017979
Large fontanelles (HP:0000239) oio:hasDbXref SNOMEDCT_US:276709006
Exercise-induced leg cramps (HP:0008991) oio:hasDbXref UMLS:C4024607
Retinal dystrophy (HP:0000556) oio:hasDbXref SNOMEDCT_US:314407005
Right aortic arch with mirror image branching (HP:0002627) oio:hasDbXref UMLS:C4025695
Osteolysis (HP:0002797) oio:hasDbXref SNOMEDCT_US:203522001
Taurodontia (HP:0000679) oio:hasDbXref UMLS:C0266039
Upper-limb joint contracture (HP:0100360) oio:hasDbXref UMLS:C2750635
4-Hydroxyphenylpyruvic aciduria (HP:0003161) oio:hasDbXref UMLS:C1848678
Narrow nose (HP:0000460) oio:hasDbXref SNOMEDCT_US:249322008
Equinovarus deformity (HP:0008110) oio:hasDbXref UMLS:C0009081
Dilated cardiomyopathy (HP:0001644) oio:hasDbXref SNOMEDCT_US:195021004
Severity (HP:0012824) oio:hasDbXref UMLS:C0522510
Apnea (HP:0002104) oio:hasDbXref SNOMEDCT_US:248583008
Premature loss of primary teeth (HP:0006323) oio:hasDbXref SNOMEDCT_US:122483006
Small foramen magnum (HP:0002677) oio:hasDbXref UMLS:C1535953
Renal duplication (HP:0000075) oio:hasDbXref UMLS:C0266298
Choriocarcinoma (HP:0100768) oio:hasDbXref UMLS:C0008497
Cranial hyperostosis (HP:0004437) oio:hasDbXref UMLS:C4280529
Neoplasm of the oral cavity (HP:0100649) oio:hasDbXref UMLS:C0149744
Preeclampsia (HP:0100602) oio:hasDbXref UMLS:C0032914
Secondary microcephaly (HP:0005484) oio:hasDbXref UMLS:C1847514
Babinski sign (HP:0003487) oio:hasDbXref SNOMEDCT_US:366575004
Generalized periodontitis (HP:0011058) oio:hasDbXref UMLS:C4280345
Hyperemesis gravidarum (HP:0012188) oio:hasDbXref SNOMEDCT_US:14094001
Ewing sarcoma (HP:0012254) oio:hasDbXref UMLS:C0553580
Neoplasm of the nervous system (HP:0004375) oio:hasDbXref UMLS:C0027766
Broad thumb (HP:0011304) oio:hasDbXref UMLS:C0426891
Abnormal palmar dermatoglyphics (HP:0001018) oio:hasDbXref UMLS:C4025810
Reduced circulating lactate dehydrogenase concentration (HP:0045041) oio:hasDbXref UMLS:C3279904
Lactic acidosis (HP:0003128) oio:hasDbXref UMLS:C0347959
Laryngeal web (HP:0005950) oio:hasDbXref SNOMEDCT_US:297159008
Bilateral vocal cord paresis (HP:0012822) oio:hasDbXref UMLS:C0751574
Cluster headache (HP:0012199) oio:hasDbXref SNOMEDCT_US:230473009
Facial muscle hypertrophy (HP:0012892) oio:hasDbXref UMLS:C4280307
Narrow naris (HP:0009933) oio:hasDbXref SNOMEDCT_US:249336003
Abnormal cardiac ventricle morphology (HP:0001713) oio:hasDbXref UMLS:C4025752
Dysmetria (HP:0001310) oio:hasDbXref UMLS:C0234162
Excessive salivation (HP:0003781) oio:hasDbXref UMLS:C0037036
Abnormal tubulointerstitial morphology (HP:0001969) oio:hasDbXref SNOMEDCT_US:28689008
Fragmentation of the epiphysis of the proximal phalanx of the 5th finger (HP:0009202) oio:hasDbXref UMLS:C4024538
Gangrene (HP:0100758) oio:hasDbXref SNOMEDCT_US:372070002
Decreased numbers of nephrons (HP:0005563) oio:hasDbXref UMLS:C2673888
Heavy supraorbital ridges (HP:0002054) oio:hasDbXref UMLS:C1845107
Knee dislocation (HP:0004976) oio:hasDbXref SNOMEDCT_US:58320001
Abnormal platelet dense granule ATP/ADP ratio (HP:0030401) oio:hasDbXref UMLS:C4072934
Mulberry molar (HP:0011092) oio:hasDbXref SNOMEDCT_US:109436001
Periventricular leukomalacia (HP:0006970) oio:hasDbXref SNOMEDCT_US:230769007
Hyperconvex vertebral body endplates (HP:0004603) oio:hasDbXref UMLS:C4025307
Type II transferrin isoform profile (HP:0012301) oio:hasDbXref UMLS:C4021094
Decreased movement range in interphalangeal joints (HP:0006203) oio:hasDbXref UMLS:C1836772
Osteolytic defects of the phalanges of the hand (HP:0009771) oio:hasDbXref SNOMEDCT_US:63122002
Carpal bone malsegmentation (HP:0005776) oio:hasDbXref UMLS:C4025137
Left ventricular hypertrophy (HP:0001712) oio:hasDbXref SNOMEDCT_US:55827005
Moderately reduced visual acuity (HP:0030515) oio:hasDbXref SNOMEDCT_US:397542006
Irregular chondrocostal junctions (HP:0006606) oio:hasDbXref UMLS:C1861199
Focal aware seizure (HP:0002349) oio:hasDbXref SNOMEDCT_US:79348005
Gastrointestinal hemorrhage (HP:0002239) oio:hasDbXref UMLS:C0017181
Abnormal dense granule content (HP:0012529) oio:hasDbXref UMLS:C4021839
Macrodontia of permanent maxillary central incisor (HP:0000675) oio:hasDbXref UMLS:C4280621
Absent humeral epiphyseal ossification (HP:0003892) oio:hasDbXref UMLS:C4021713
Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208) oio:hasDbXref UMLS:C4022578
Aplasia cutis congenita of scalp (HP:0007385) oio:hasDbXref UMLS:C4072857
Triangular shaped phalanges of the 2nd finger (HP:0009546) oio:hasDbXref UMLS:C4021445
Syncope (HP:0001279) oio:hasDbXref SNOMEDCT_US:272030005
Tracheoesophageal fistula (HP:0002575) oio:hasDbXref UMLS:C0040588
Tachycardia (HP:0001649) oio:hasDbXref UMLS:C4020868
Biliary atresia (HP:0005912) oio:hasDbXref SNOMEDCT_US:77480004
Long penis (HP:0000040) oio:hasDbXref UMLS:C0269011
Fragmentation of the epiphyses of the 5th toe (HP:0100081) oio:hasDbXref UMLS:C4022340
Ischemic stroke (HP:0002140) oio:hasDbXref UMLS:C0948008
Widening of cervical spinal canal (HP:0004571) oio:hasDbXref UMLS:C3807591
Meningocele (HP:0002435) oio:hasDbXref SNOMEDCT_US:171131006
Squamous cell lung carcinoma (HP:0030359) oio:hasDbXref UMLS:C0149782
Enlarged epiphysis of the proximal phalanx of the 4th finger (HP:0009264) oio:hasDbXref UMLS:C4024485
Positive Romberg sign (HP:0002403) oio:hasDbXref UMLS:C0240914
Focal sensory seizure with gustatory features (HP:0011160) oio:hasDbXref UMLS:C0233766
Absent inner eyelashes (HP:0007708) oio:hasDbXref UMLS:C4024812
Supernumerary testes (HP:0010470) oio:hasDbXref SNOMEDCT_US:17471001
Female anorgasmia (HP:0030015) oio:hasDbXref UMLS:C4022677
Abnormality of the amniotic fluid (HP:0001560) oio:hasDbXref UMLS:C0266781
Abnormal circulating phosphate ion concentration (HP:0100529) oio:hasDbXref UMLS:C4022032
Cerebellar granular layer atrophy (HP:0012080) oio:hasDbXref UMLS:C4023054
Fractured hand bones (HP:0004277) oio:hasDbXref UMLS:C0435632
Hypopigmentation of the skin (HP:0001010) oio:hasDbXref SNOMEDCT_US:89031001
Reduced glutathione synthetase level (HP:0003343) oio:hasDbXref SNOMEDCT_US:234589002
Spondylolisthesis (HP:0003302) oio:hasDbXref UMLS:C0038016
EEG with changes in voltage (HP:0011201) oio:hasDbXref UMLS:C4023473
Papilloma (HP:0012740) oio:hasDbXref SNOMEDCT_US:711329002
Moderate expressive language delay (HP:0011345) oio:hasDbXref UMLS:C3532933
Aphasia (HP:0002381) oio:hasDbXref SNOMEDCT_US:87486003
Abnormality of temporalis muscle (HP:3000017) oio:hasDbXref UMLS:C4073226
Ankle pain (HP:0030840) oio:hasDbXref SNOMEDCT_US:247373008
Abnormal brain choline/creatine ratio by MRS (HP:0012709) oio:hasDbXref UMLS:C4022760
Left anterior fascicular block (HP:0011711) oio:hasDbXref UMLS:C0264912
Corneal arcus (HP:0001084) oio:hasDbXref UMLS:C0003742
Kayser-Fleischer ring (HP:0200032) oio:hasDbXref UMLS:C0152457
Distal shortening of limbs (HP:0006402) oio:hasDbXref UMLS:C1840307
Spasticity (HP:0001257) oio:hasDbXref SNOMEDCT_US:397790002
Stippling of thumb epiphysis (HP:0009695) oio:hasDbXref UMLS:C4021401
Irregular epiphysis of the proximal phalanx of the 4th toe (HP:0100196) oio:hasDbXref UMLS:C4022225
Absent ossification of capital femoral epiphysis (HP:0008820) oio:hasDbXref UMLS:C1968686
Abnormality of thumb epiphysis (HP:0009599) oio:hasDbXref UMLS:C4021429
Abnormal ventricular septum morphology (HP:0010438) oio:hasDbXref UMLS:C4021264
Encephalopathy (HP:0001298) oio:hasDbXref UMLS:C0085584
Underdeveloped nasolabial fold (HP:0010801) oio:hasDbXref UMLS:C4021227
Absent epiphysis of the distal phalanx of the 4th toe (HP:0100169) oio:hasDbXref UMLS:C4022252
Mirror image hand polydactyly (HP:0010690) oio:hasDbXref UMLS:C4021239
Stillbirth (HP:0003826) oio:hasDbXref SNOMEDCT_US:237364002
Alveolar cell carcinoma (HP:0006519) oio:hasDbXref SNOMEDCT_US:36310008
Acute monocytic leukemia (HP:0004845) oio:hasDbXref UMLS:C0023465
Follicular thyroid carcinoma (HP:0006731) oio:hasDbXref SNOMEDCT_US:28173006
Chronic myelomonocytic leukemia (HP:0012325) oio:hasDbXref SNOMEDCT_US:127225006
Abnormal retinal morphology (HP:0000479) oio:hasDbXref UMLS:C0035309
Amelia involving the lower limbs (HP:0009818) oio:hasDbXref UMLS:C4024197
Abnormal diencephalon morphology (HP:0010662) oio:hasDbXref UMLS:C4023752
Aplasia of the proximal phalanx of the 2nd finger (HP:0009596) oio:hasDbXref UMLS:C4024275
Supernumerary tooth (HP:0011069) oio:hasDbXref UMLS:C0040457
Absent middle phalanx of the 3rd toe (HP:0100381) oio:hasDbXref UMLS:C4021010
Microdontia (HP:0000691) oio:hasDbXref UMLS:C4280611
Iliac horns (HP:0009780) oio:hasDbXref SNOMEDCT_US:84308008
Cystic hygroma (HP:0000476) oio:hasDbXref SNOMEDCT_US:399882002
Hepatic encephalopathy (HP:0002480) oio:hasDbXref UMLS:C0019151
Decreased serum creatinine (HP:0012101) oio:hasDbXref SNOMEDCT_US:166715006
Anisocoria (HP:0009916) oio:hasDbXref SNOMEDCT_US:13045009
Anorectal anomaly (HP:0012732) oio:hasDbXref UMLS:C3495676
Proximal phalangeal periosteal thickening (HP:0006175) oio:hasDbXref UMLS:C1834348
Irregular epiphysis of the middle phalanx of the 4th toe (HP:0100185) oio:hasDbXref UMLS:C4022236
Hemoptysis (HP:0002105) oio:hasDbXref UMLS:C0019079
Short hard palate (HP:0010290) oio:hasDbXref UMLS:C4020772
Hyperhidrosis (HP:0000975) oio:hasDbXref SNOMEDCT_US:364538006
Impaired platelet adhesion (HP:0008352) oio:hasDbXref UMLS:C4024694
Hypoplasia of the lower eyelids (HP:0007697) oio:hasDbXref UMLS:C4024814
Patchy sclerosis of middle phalanx of toe (HP:0010199) oio:hasDbXref UMLS:C4021319
Absent tonsils (HP:0030813) oio:hasDbXref SNOMEDCT_US:300277007
Abnormality of movement (HP:0100022) oio:hasDbXref SNOMEDCT_US:60342002
Abnormality of ocular abduction (HP:0011347) oio:hasDbXref UMLS:C4023405
Meconium peritonitis (HP:0030717) oio:hasDbXref UMLS:C0270250
Patent urachus (HP:0010479) oio:hasDbXref UMLS:C0266357
Neck joint contracture (HP:0005997) oio:hasDbXref UMLS:C1867006
Cystinuria (HP:0003131) oio:hasDbXref SNOMEDCT_US:85020001
Elevated creatine kinase after exercise (HP:0008331) oio:hasDbXref UMLS:C4024700
Ectropion of lower eyelids (HP:0007651) oio:hasDbXref SNOMEDCT_US:95758006
Chylopericardium (HP:0011852) oio:hasDbXref SNOMEDCT_US:233890005
Chordoma (HP:0010762) oio:hasDbXref SNOMEDCT_US:50007008
Urinary glycosaminoglycan excretion (HP:0003541) oio:hasDbXref UMLS:C4025598
Optic neuritis (HP:0100653) oio:hasDbXref UMLS:C0029134
Chorioretinal coloboma (HP:0000567) oio:hasDbXref UMLS:C0240896
Triangular shaped proximal phalanges of the toes (HP:0010210) oio:hasDbXref UMLS:C4023969
Coronal hypospadias (HP:0008743) oio:hasDbXref UMLS:C1394030
Band-shaped corneal dystrophy (HP:0007709) oio:hasDbXref SNOMEDCT_US:35055000
Absent nares (HP:0100596) oio:hasDbXref UMLS:C4020707
Ocular albinism (HP:0001107) oio:hasDbXref SNOMEDCT_US:26399002
Prominent occiput (HP:0000269) oio:hasDbXref UMLS:C4280652
Abnormal parietal bone morphology (HP:0002696) oio:hasDbXref UMLS:C4021834
Blue cone monochromacy (HP:0007939) oio:hasDbXref SNOMEDCT_US:24704003
Mizuo phenomenon (HP:0030824) oio:hasDbXref UMLS:C4280748
Aortic valve calcification (HP:0004380) oio:hasDbXref SNOMEDCT_US:250978003
Bilateral basal ganglia lesions (HP:0007146) oio:hasDbXref UMLS:C4024932
Bilateral breast hypoplasia (HP:0012814) oio:hasDbXref UMLS:C4022716
Widened metacarpal shaft (HP:0006012) oio:hasDbXref UMLS:C1850159
Angiosarcoma (HP:0200058) oio:hasDbXref SNOMEDCT_US:403977003
Complex febrile seizure (HP:0011172) oio:hasDbXref UMLS:C0751057
Anterior pituitary hypoplasia (HP:0010627) oio:hasDbXref UMLS:C1859775
Nephroblastoma (HP:0002667) oio:hasDbXref SNOMEDCT_US:302849000
EEG with focal spike waves (HP:0011197) oio:hasDbXref UMLS:C4023477
Transient hyperlipidemia (HP:0008279) oio:hasDbXref UMLS:C1850722
Hyperphosphatemia (HP:0002905) oio:hasDbXref UMLS:C0085681
Maxillozygomatic hypoplasia (HP:0005439) oio:hasDbXref UMLS:C1848908
Bifid epiglottis (HP:0010564) oio:hasDbXref UMLS:C0339864
Velamentous cord insertion (HP:0030659) oio:hasDbXref SNOMEDCT_US:77278008
Pancreatic endocrine tumor (HP:0030405) oio:hasDbXref SNOMEDCT_US:126864006
Facial hypotonia (HP:0000297) oio:hasDbXref UMLS:C4280646
Hypertensive retinopathy (HP:0001095) oio:hasDbXref UMLS:C0152132
Maternal anticardiolipin antibody positive (HP:0012536) oio:hasDbXref UMLS:C4022860
Duplication of the distal phalanx of the thumb (HP:0009612) oio:hasDbXref UMLS:C4021425
APUdoma (HP:0040192) oio:hasDbXref SNOMEDCT_US:253008000
Abnormality of the midnasal cavity (HP:0010641) oio:hasDbXref UMLS:C4021861
Lumbar hyperlordosis (HP:0002938) oio:hasDbXref UMLS:C1184923
Urachal cyst (HP:0012618) oio:hasDbXref SNOMEDCT_US:17234001
Age-related cataract (HP:0011141) oio:hasDbXref UMLS:C0036646
Hypoplasia of the odontoid process (HP:0003311) oio:hasDbXref UMLS:C1846439
Ovoid vertebral bodies (HP:0003300) oio:hasDbXref UMLS:C1855665
Reduced orotidine 5-prime phosphate decarboxylase level (HP:0003267) oio:hasDbXref UMLS:C4020845
Ulnar deviation of finger (HP:0009465) oio:hasDbXref SNOMEDCT_US:367510009
Curved proximal phalanx of the 4th finger (HP:0009288) oio:hasDbXref UMLS:C4024467
Rigidity (HP:0002063) oio:hasDbXref UMLS:C0026837
Abnormally low-pitched voice (HP:0010300) oio:hasDbXref UMLS:C4023915
Bullet-shaped middle phalanx of toe (HP:0010196) oio:hasDbXref UMLS:C4021321
Generalized joint hypermobility (HP:0002761) oio:hasDbXref UMLS:C1836308
Bifid femur (HP:0010443) oio:hasDbXref UMLS:C4023824
Hypoplastic right ventricle (HP:0010954) oio:hasDbXref UMLS:C0344963
Abnormal cerebellar vermis morphology (HP:0002334) oio:hasDbXref UMLS:C4025712
Dry skin (HP:0000958) oio:hasDbXref SNOMEDCT_US:16386004
Moderate expressive language delay (HP:0011345) oio:hasDbXref SNOMEDCT_US:62211000119103
Migraine without aura (HP:0002083) oio:hasDbXref UMLS:C0338480
Hooded eyelid (HP:0030820) oio:hasDbXref UMLS:C3277348
4-5 toe syndactyly (HP:0004692) oio:hasDbXref UMLS:C1837836
Weak voice (HP:0001621) oio:hasDbXref SNOMEDCT_US:8614008
Vanishing testis (HP:0012870) oio:hasDbXref SNOMEDCT_US:53599007
Athetosis (HP:0002305) oio:hasDbXref SNOMEDCT_US:58593005
Delayed ossification of the scaphoid (HP:0004246) oio:hasDbXref UMLS:C4021670
Acute hyperammonemia (HP:0008281) oio:hasDbXref UMLS:C1859506
Predominantly lower limb lymphedema (HP:0003550) oio:hasDbXref UMLS:C1835228
Hypergonadotropic hypogonadism (HP:0000815) oio:hasDbXref UMLS:C0948896
Severe (HP:0012828) oio:hasDbXref SNOMEDCT_US:24484000
Gastric hypertrophy (HP:0005207) oio:hasDbXref UMLS:C1834341
Coronary artery atherosclerosis (HP:0001677) oio:hasDbXref UMLS:C1956346
Deuteranopia (HP:0011521) oio:hasDbXref SNOMEDCT_US:77479002
Skin rash (HP:0000988) oio:hasDbXref SNOMEDCT_US:271807003
Head-banging (HP:0012168) oio:hasDbXref SNOMEDCT_US:43954004
Non-Hodgkin lymphoma (HP:0012539) oio:hasDbXref SNOMEDCT_US:128929007
Duplication of the proximal phalanx of the 5th finger (HP:0009990) oio:hasDbXref UMLS:C4021351
Gonadal dysgenesis (HP:0000133) oio:hasDbXref SNOMEDCT_US:83579008
ST segment depress

WARNING: This diff is too large and has been truncated. For full diff see here.

@pnrobinson

pnrobinson commented Sep 1, 2026

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@matentzn thanks!

@pnrobinson
pnrobinson merged commit e2e857f into master Sep 1, 2026
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@pnrobinson
pnrobinson deleted the rm-umls branch September 1, 2026 14:11
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@matentzn @pnrobinson