Item in Mix'n'Match |
Mix'n'match entry |
External ID |
External label
|
liver cirrhosis (Q147778) |
19251163 |
HP:0001394 HP:0001394 |
Cirrhosis
|
19252594 |
HP:0001395 HP:0001395 |
Hepatic fibrosis
|
hair loss (Q181391) |
19252330 |
HP:0002292 HP:0002292 |
Frontal balding
|
19250232 |
HP:0002293 HP:0002293 |
Alopecia of scalp
|
stomach cancer (Q189588) |
19254072 |
HP:0006753 HP:0006753 |
Neoplasm of the stomach
|
19255680 |
HP:0012126 HP:0012126 |
Stomach cancer
|
hypoglycemia (Q202758) |
19252818 |
HP:0001943 HP:0001943 |
Hypoglycemia
|
19252190 |
HP:0003162 HP:0003162 |
Fasting hypoglycemia
|
acute myeloid leukemia (Q264118) |
19250153 |
HP:0004808 HP:0004808 |
Acute myeloid leukemia
|
19250151 |
HP:0006733 HP:0006733 |
Acute megakaryocytic leukemia
|
abducens nerve palsy (Q317977) |
19251382 |
HP:0006897 HP:0006897 |
Cranial nerve VI palsy
|
19248846 |
HP:0011349 HP:0011349 |
Abducens palsy
|
craniosynostosis (Q378183) |
19256009 |
HP:0000243 HP:0000243 |
Trigonocephaly
|
19256025 |
HP:0000262 HP:0000262 |
Turricephaly
|
19254296 |
HP:0000263 HP:0000263 |
Oxycephaly
|
19251393 |
HP:0001363 HP:0001363 |
Craniosynostosis
|
retinal disease (Q550455) |
19249863 |
HP:0000479 HP:0000479 |
Abnormality of the retina
|
19255210 |
HP:0000488 HP:0000488 |
Retinopathy
|
hip dysplasia (Q625935) |
19251272 |
HP:0001374 HP:0001374 |
Congenital hip dislocation
|
19252636 |
HP:0001385 HP:0001385 |
Hip dysplasia
|
biliary atresia (Q659033) |
19252143 |
HP:0005242 HP:0005242 |
Extrahepatic biliary duct atresia
|
19250761 |
HP:0005912 HP:0005912 |
Biliary atresia
|
arthropathy (Q708176) |
19248989 |
HP:0001367 HP:0001367 |
Abnormal joint morphology
|
19250591 |
HP:0003040 HP:0003040 |
Arthropathy
|
respiratory failure (Q767485) |
19255156 |
HP:0002093 HP:0002093 |
Respiratory insufficiency
|
19255154 |
HP:0002878 HP:0002878 |
Respiratory failure
|
gait abnormality (Q827017) |
19252369 |
HP:0001288 HP:0001288 |
Gait disturbance
|
19255588 |
HP:0002064 HP:0002064 |
Spastic gait
|
aplastic anemia (Q846316) |
19252910 |
HP:0001908 HP:0001908 |
Hypoplastic anemia
|
19250553 |
HP:0001915 HP:0001915 |
Aplastic anemia
|
hypogonadism (Q938107) |
19252826 |
HP:0000044 HP:0000044 |
Hypogonadotrophic hypogonadism
|
19252825 |
HP:0000135 HP:0000135 |
Hypogonadism
|
19252706 |
HP:0000815 HP:0000815 |
Hypergonadotropic hypogonadism
|
optic neuritis (Q972514) |
19254221 |
HP:0100653 HP:0100653 |
Optic neuritis
|
19255212 |
HP:0100654 HP:0100654 |
Retrobulbar optic neuritis
|
agammaglobulinemia (Q1047559) |
19251472 |
HP:0004313 HP:0004313 |
Decreased antibody level in blood
|
19250194 |
HP:0004432 HP:0004432 |
Agammaglobulinemia
|
kidney disease (Q1054718) |
19249704 |
HP:0000077 HP:0000077 |
Abnormality of the kidney
|
19254086 |
HP:0000112 HP:0000112 |
Nephropathy
|
hemolytic anemia (Q1145668) |
19252579 |
HP:0001878 HP:0001878 |
Hemolytic anemia
|
19253776 |
HP:0001937 HP:0001937 |
Microangiopathic hemolytic anemia
|
interstitial lung disease (Q1153419) |
19253229 |
HP:0006515 HP:0006515 |
Interstitial pneumonitis
|
19253230 |
HP:0006530 HP:0006530 |
Interstitial pulmonary abnormality
|
acute liver failure (Q1192530) |
19252348 |
HP:0004448 HP:0004448 |
Fulminant hepatic failure
|
19250144 |
HP:0006554 HP:0006554 |
Acute hepatic failure
|
encephalocele (Q1346023) |
19251985 |
HP:0002084 HP:0002084 |
Encephalocele
|
19254171 |
HP:0002085 HP:0002085 |
Occipital encephalocele
|
fasciculation (Q1397878) |
19255938 |
HP:0001308 HP:0001308 |
Tongue fasciculations
|
19252187 |
HP:0002380 HP:0002380 |
Fasciculations
|
interstitial nephritis (Q1424106) |
19256022 |
HP:0001969 HP:0001969 |
Tubulointerstitial abnormality
|
19256024 |
HP:0001970 HP:0001970 |
Tubulointerstitial nephritis
|
piebaldism (Q1516083) |
19254391 |
HP:0007443 HP:0007443 |
Partial albinism
|
19254539 |
HP:0007544 HP:0007544 |
Piebaldism
|
renal tubular acidosis (Q1516211) |
19255144 |
HP:0001947 HP:0001947 |
Renal tubular acidosis
|
19254872 |
HP:0002049 HP:0002049 |
Proximal renal tubular acidosis
|
Glanzmann's thrombasthenia (Q1529258) |
19249969 |
HP:0001872 HP:0001872 |
Abnormality of thrombocytes
|
19251533 |
HP:0001975 HP:0001975 |
Decreased platelet glycoprotein IIb-IIIa
|
hydrophthalmos (Q1640324) |
19250912 |
HP:0000557 HP:0000557 |
Buphthalmos
|
19251269 |
HP:0001087 HP:0001087 |
Congenital glaucoma
|
ophthalmoplegia (Q1723331) |
19254205 |
HP:0000597 HP:0000597 |
Ophthalmoparesis
|
19254206 |
HP:0000602 HP:0000602 |
Ophthalmoplegia
|
spinal cord disease (Q2303951) |
19249893 |
HP:0002143 HP:0002143 |
Abnormality of the spinal cord
|
19253951 |
HP:0002196 HP:0002196 |
Myelopathy
|
scimitar syndrome (Q2557206) |
19255949 |
HP:0005160 HP:0005160 |
Total anomalous pulmonary venous return
|
19250299 |
HP:0010772 HP:0010772 |
Anomalous pulmonary venous return
|
movement disorders (Q2608695) |
19253265 |
HP:0004305 HP:0004305 |
Involuntary movements
|
19249380 |
HP:0100022 HP:0100022 |
Abnormality of movement
|
retinal degeneration (Q3043268) |
19255186 |
HP:0000546 HP:0000546 |
Retinal degeneration
|
19255181 |
HP:0001105 HP:0001105 |
Retinal atrophy
|
3-methylglutaconic aciduria (Q3598794) |
19248830 |
HP:0003344 HP:0003344 |
3-Methylglutaric aciduria
|
19248829 |
HP:0003535 HP:0003535 |
3-Methylglutaconic aciduria
|
basal ganglia disease (Q4866181) |
19249280 |
HP:0002071 HP:0002071 |
Abnormality of extrapyramidal motor function
|
19249523 |
HP:0002134 HP:0002134 |
Abnormality of the basal ganglia
|
palmoplantar keratosis (Q7128426) |
19254314 |
HP:0000972 HP:0000972 |
Palmoplantar hyperkeratosis
|
19254315 |
HP:0000982 HP:0000982 |
Palmoplantar keratoderma
|
pituitary gland disease (Q7199538) |
19249507 |
HP:0011747 HP:0011747 |
Abnormality of the anterior pituitary
|
19249824 |
HP:0012503 HP:0012503 |
Abnormality of the pituitary gland
|
thyroid dysgenesis (Q7799746) |
19255913 |
HP:0005990 HP:0005990 |
Thyroid hypoplasia
|
19255909 |
HP:0008188 HP:0008188 |
Thyroid dysgenesis
|
ovotesticular disorder of sex development (Q54944059) |
19256015 |
HP:0010459 HP:0010459 |
True hermaphroditism
|
19254295 |
HP:0012861 HP:0012861 |
Ovotestis
|
Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes (Q56384030) |
19248821 |
HP:0004691 HP:0004691 |
2-3 toe syndactyly
|
19248824 |
HP:0010714 HP:0010714 |
2-4 toe syndactyly
|
1-5 finger complete cutaneous syndactyly (Q106439943) |
19248815 |
HP:0006088 HP:0006088 |
1-5 finger complete cutaneous syndactyly
|
19248816 |
HP:0010708 HP:0010708 |
1-5 finger syndactyly
|