Releases: obophenotype/human-phenotype-ontology
Releases · obophenotype/human-phenotype-ontology
2025-01-16 Release
HPO Content Updates
Classes added: 9
| Term |
|---|
| Poor R-wave progression (HP:6001161) |
| Synovial crystals (HP:6001156) |
| Finger mass (HP:6001163) |
| Pulsatile mass in extremity (HP:6001159) |
| Occupational exposure to frequent kneeling (HP:6001157) |
| Abnormal R wave (HP:6001160) |
| Trochanteric pain (HP:6001158) |
| Prominent V1-V2 R wave (HP:6001162) |
| Foot mass (HP:6001164) |
Synonyms added: 29
| Term | New Synonym | Predicate |
|---|---|---|
| Trochanteric pain (HP:6001158) | Pain at the lateral aspect of the hip | oio:hasExactSynonym |
| Finger mass (HP:6001163) | Bump on finger | oio:hasExactSynonym |
| Occupational exposure to frequent kneeling (HP:6001157) | History of frequent kneeling | oio:hasExactSynonym |
| Foot mass (HP:6001164) | Lump on foot | oio:hasExactSynonym |
| Food allergy (HP:0500093) | Allergic reaction to foods | oio:hasExactSynonym |
| Hepatic failure (HP:0001399) | Hepatic insufficiency | oio:hasExactSynonym |
| Reduced MHC II surface expression (HP:0031390) | Reduced human leukocyte antigen class II surface expression | oio:hasExactSynonym |
| Slow-growing hair (HP:0002217) | Poor hair growth | oio:hasExactSynonym |
| Foot mass (HP:6001164) | Foot growth | oio:hasExactSynonym |
| Food allergy (HP:0500093) | Reaction to food allergens | oio:hasExactSynonym |
| Synovial crystals (HP:6001156) | Crystals in synovial fluid | oio:hasExactSynonym |
| Chiari malformation (HP:0002308) | Cerebellar tonsillar ectopia | oio:hasExactSynonym |
| Prominent V1-V2 R wave (HP:6001162) | Prominent R wave in lead V1 | oio:hasExactSynonym |
| Facial edema (HP:0000282) | Swelling of the face | oio:hasExactSynonym |
| Abnormal MHC II surface expression (HP:0031389) | Abnormal human leukocyte antigen class II surface expression | oio:hasExactSynonym |
| Stiff skin (HP:0030053) | Skin induration | oio:hasExactSynonym |
| Reduced MHC II surface expression (HP:0031390) | Abnormal HLA class II surface expression | oio:hasExactSynonym |
| Finger mass (HP:6001163) | Finger growth | oio:hasExactSynonym |
| Synovial crystals (HP:6001156) | Bursa aspiration: crystals present | oio:hasExactSynonym |
| Recurrent bronchopulmonary infections (HP:0006538) | Recurrent bronchopneumonia | oio:hasExactSynonym |
| Prominent V1-V2 R wave (HP:6001162) | High voltage R wave in V1/V2 | oio:hasExactSynonym |
| Trochanteric pain (HP:6001158) | Lateral hip pain | oio:hasExactSynonym |
| Pulmonary artery atresia (HP:0004935) | Atresia of the pulmonary artery | oio:hasExactSynonym |
| Foot mass (HP:6001164) | Bump on foot | oio:hasExactSynonym |
| Finger mass (HP:6001163) | Lump on finger | oio:hasExactSynonym |
| Trochanteric pain (HP:6001158) | Pain on the outside of the hip | oio:hasExactSynonym |
| Abnormal MHC II surface expression (HP:0031389) | Abnormal major histocompatibility complex class II surface expression | oio:hasExactSynonym |
| Recurrent sinusitis (HP:0011108) | Recurrent sinus infections | oio:hasExactSynonym |
| Swollen lip (HP:0031244) | Lip swelling | oio:hasExactSynonym |
Synonyms removed: 1
| Term | Removed Synonym |
|---|---|
| Elevated urine D-lactate level (HP:6000467) | #8641 |
Nodes renamed: 1
| ID | Old Label | New Label |
|---|---|---|
| HP:0031134 | Cor triatrium sinister | Cor triatriatum sinister |
What's Changed
- Fix issue where wrong property was used for term tracker item by @matentzn in #10969
- Fix typo in Cor triatriatum sinister by @matentzn in #10970
- Update imports and remove CLM by @matentzn in #10971
Full Changelog: v2024-12-12...2025-01-16
Contributors
matentzn
Assets 25
- 1.38 MB
2025-01-16T15:56:24Z - 18.8 MB
2025-01-16T15:56:24Z - 20.5 MB
2025-01-16T15:56:02Z - 10.1 MB
2025-01-16T15:56:02Z - 45.1 MB
2025-01-16T15:56:05Z - 212 KB
2025-01-16T15:56:23Z - 20.6 MB
2025-01-16T15:56:05Z - 13.6 MB
2025-01-16T15:56:06Z - 47.1 MB
2025-01-16T15:56:06Z - 40.3 MB
2025-01-16T15:56:08Z -
2025-01-16T15:59:18Z -
2025-01-16T15:59:18Z - Loading
2024-12-12 Release
New and updated content
Phenotypes renamed: 29
| ID | Old Label | New Label |
|---|---|---|
| HP:0041090 | obsolete Avulsion fractured pelvic region of trunk | Pelvic avulsion fracture |
| HP:0004366 | Abnormality of glycolysis | obsolete Abnormality of glycolysis |
| HP:5200267 | Laeden paralysis | Leaden paralysis |
| HP:6000762 | Posiitive rubella CSF culture | Positive rubella CSF culture |
| HP:0041243 | Fractured proximal phalanx of manus | Fractured proximal finger phalanx |
| HP:0031103 | Decreased cirrculating antimullerian hormone circulation | Decreased circulating antimullerian hormone circulation |
| HP:0041064 | Fractured knee | obsolete Fractured knee |
| HP:0007543 | Epidermal hyperkeratosis | obsolete Epidermal hyperkeratosis |
| HP:0041236 | Fractured middle phalanx of manus | Fractured middle finger phalanx |
| HP:0003891 | Abnormality of the humeral epiphysis | Abnormal humeral epiphysis morphology |
| HP:5200018 | Steroetypic upper-extremity movements | Stereotypic upper-extremity movements |
| HP:0002423 | Long-tract signs | Long-tract sign |
| HP:0007350 | Hyperreflexia in upper limbs | Upper limb hyperreflexia |
| HP:0025707 | Hypoplastic nasal bone | Hypoplastic fetal nasal bone |
| HP:0003063 | Abnormality of the humerus | obsolete Abnormality of the humerus |
| HP:6000299 | Forearm | Forearm pain |
| HP:0041174 | Fractured distal phalanx of manus | Fractured distal finger phalanx |
| HP:0041161 | obsolete Fractured pelvic region of trunk | Pelvis fracture |
| HP:0041239 | Fractured manual digit 1 phalanx | Fractured thumb phalanx |
| HP:0000290 | Abnormality of the forehead | Abnormal forehead morphology |
| HP:0041225 | Fractured metacarpal bone of digit 1 | Fractured 1st metacarpal |
| HP:5200017 | Steroetypic movements of face and head | Stereotypic movements of face and head |
| HP:0030995 | Peritoneal effusion | obsolete Peritoneal effusion |
| HP:0003542 | Increased serum pyruvate | Increased circulating pyruvate concentration |
| HP:3000022 | Abnormality of cartilage of external ear | Abnormal external ear cartilage morphology |
| HP:0003961 | Fractured forearm bones | Fractured forearm bone |
| HP:0000811 | Abnormal external genitalia | Abnormal external genitalia morphology |
| HP:0040110 | Abnormal saccule morphology | obsolete Abnormal saccule morphology |
| HP:0041241 | Fractured phalanx of manus | Fractured finger phalanx |
Phenotypes added: 41
| Term |
|---|
| Hypertrophic ulnar styloid process (HP:6001117) |
| Digoxin exposure (HP:6001138) |
| Pain at the medial aspect of the knee (HP:6001154) |
| Posterior fat pad sign of the elbow (HP:6001143) |
| Distal radioulnar joint arthritis (HP:6001130) |
| Increased peripheral nerve cross sectional area (HP:6001147) |
| Purulent drainage from skin (HP:6001119) |
| Coronoid fracture (HP:6001134) |
| Radial head fracture (HP:6001131) |
| History of recent participation in athletics (HP:6001128) |
| Pain at the anterior aspect of the knee (HP:6001144) |
| Skin laceration (HP:6001125) |
| Upper arm pain (HP:6001139) |
| History of spinal cord injury (HP:6001135) |
| Triceps tendon rupture (HP:6001137) |
| Pain exacerbated by wrist deviation (HP:6001152) |
| Metacarpal fracture (HP:6001126) |
| Pain disproportionate to abnormality on physical exam (HP:6001123) |
| Pain on the lateral aspect of the foot (HP:6001153) |
| Pain at the posterior aspect of the knee (HP:6001145) |
| Pain at the base of the thumb (HP:6001127) |
| Positive Speed's test (HP:6001150) |
| Femoral nerve distribution (HP:6001136) |
| Remote trauma history (HP:6001129) |
| Capitellum fracture (HP:6001140) |
| EEG with temporal slowing (HP:6001115) |
| Pain at the lateral aspect of the knee (HP:6001155) |
| Single-finger involvement (HP:6001121) |
| Pain at the anterior aspect of the elbow (HP:6001142) |
| Biceps tendonitis (HP:6001146) |
| Elbow lateral collateral ligament tear (HP:6001132) |
| Pain exacerbated by passive flexion at joint (HP:6001148) |
| Triangular lunate bone (HP:6001151) |
| Positive hook test at the elbow (HP:6001149) |
| Anterior shoulder pain (HP:6001141) |
| Occupational history of putting fingers in other people's mouths (HP:6001120) |
| History of high-pressure injection injury of the hand (HP:6001116) |
| Elbow medial collateral ligament tear (HP:6001133) |
| Multiple-finger involvement (HP:6001122) |
| Sphenoid wing dysplasia (HP:6001124) |
| History of recent peripheral venous catheter (HP:6001118) |
Synonyms added: 84
| Term | New Synonym | Predicate |
|---|---|---|
| Positive hook test at the elbow (HP:6001149) | Positive O'Driscoll hook test | oio:hasExactSynonym |
| Cutaneous cyst (HP:0025245) | Skin cyst | oio:hasExactSynonym |
| Partial atrioventricular canal defect (HP:0011577) | PAVSD | oio:hasExactSynonym |
| Increased peripheral nerve cross sectional area (HP:6001147) | Peripheral nerve swelling | oio:hasExactSynonym |
| Pain on the lateral aspect of the foot (HP:6001153) | Lateral foot pain | oio:hasExactSynonym |
| Femoral nerve distribution (HP:6001136) | Femoral nerve distribution | oio:hasExactSynonym |
| Failure to thrive (HP:0001508) | FTT | oio:hasExactSynonym |
| Short REM sleep (HP:5200360) | Short rapid eye movement sleep | oio:hasExactSynonym |
| Muscle spasm (HP:0003394) | Muscle spasms | oio:hasExactSynonym |
| Distal radioulnar joint arthritis (HP:6001130) | Arthritis of the distal radioulnar joint | oio:hasExactSynonym |
| Otitis media with effusion (HP:0031353) | OME | oio:hasExactSynonym |
| Capitellum fracture (HP:6001140) | Capitellar fracture | oio:hasExactSynonym |
| Fusion of middle ear ossicles (HP:0005473) | Fused ossicles | oio:hasExactSynonym |
| Triangular lunate bone (HP:6001151) | Piece of pie sign of lunate bone | oio:hasExactSynonym |
| Neurofibrillary tangles (HP:0002185) | Tau-positive tangle | oio:hasExactSynonym |
| EEG with temporal slowing (HP:6001115) | EEG with slow activity in temporal lobes | oio:hasExactSynonym |
| Retrognathia (HP:0000278) | Lower jaw retrusion | oio:hasExactSynonym |
| Hypertrophic ulnar styloid process (HP:6001117) | Ulnar styloid large | oio:hasExactSynonym |
| Retrognathia (HP:0000278) | Mandibular retrognathia | oio:hasExactSynonym |
| Hyperkinetic movements (HP:0002487) | Hyperactive movements | oio:hasExactSynonym |
| Submucous cleft palate (HP:5201016) | Submucosal cleft palate | oio:hasExactSynonym |
| Conical incisor (HP:0011065) | Peg-shaped tooth | oio:hasExactSynonym |
| Pelvis fracture (HP:0041161) | Pelvic fracture | oio:hasExactSynonym |
| Digoxin exposure (HP:6001138) | Lanoxin exposure | oio:hasExactSynonym |
| Neurofibrillary tangles (HP:0002185) | Tau-positive neurofibrillary tangles | oio:hasExactSynonym |
| Increased circulating pyruvate concentration (HP:0003542) | Increased serum pyruvate | oio:hasExactSynonym |
| Partial atrioventricular canal defect (HP:0011577) | Partial atrioventricular septal defect | oio:hasExactSynonym |
| Multiple-finger involvement (HP:6001122) | Multiple finger involvement | oio:hasExactSynonym |
| Lens luxation (HP:0012019) | Completely dislocated lenses | oio:hasExactSynonym |
| Microcephaly (HP:0000252) | small calvarium | oio:hasNarrowSynonym |
| Upper limb hyperreflexia (HP:0007350) | Hyperreflexia in upper limbs | oio:hasExactSynonym |
| Fractured thumb phalanx (HP:0041239) | Fractured manual digit 1 phalanx | oio:hasExactSynonym |
| Upper arm pain (HP:6001139) | Proximal arm pain | oio:hasExactSynonym |
| Positive hook test at the elbow (HP:6001149) | Positive distal biceps hook test | oio:hasExactSynonym |
| Partial atrioventricular canal defect (HP:0011577) | Partial AVSD | oio:hasExactSynonym |
| Partial atrioventricular canal defect (HP:0011577) | Incomplete atrioventricular septal defect | oio:hasExactSynonym |
| Urinary urgency (HP:0000012) | Urgent micturition | oio:hasExactSynonym |
| Submucous cleft palate (HP:5201016) | Submucous clefting | oio:hasExactSynonym |
| Retrognathia (HP:0000278) | Mandibular retrusion | oio:hasExactSynonym |
| Elbow lateral collateral ligament tear (HP:6001132) | Ligamentous tear on the lateral aspect of the elbow | oio:hasExactSynonym |
| Hyperkeratosis (HP:0000962) | Epidermal hyperkeratosis | oio:hasExactSynonym |
| Partial atrioventricular canal defect (HP:0011577) | Partial AVC defect | oio:hasExactSynonym |
| Elbow lateral collateral ligament tear (HP:6001132) | Lateral ulnar collateral ligament tear | oio:hasExactSynonym |
| Retrognathia (HP:0000278) | Retrusion of lower jaw | oio:hasExactSynonym |
| Long-tract sign (HP:0002423) | Long-tract signs | oio:hasExactSynonym |
| Slow pupillary light response (HP:0030211) | Sluggish pupillary reactions to light | oio:hasExactSynonym |
| Decreased lacrimation (HP:0000633) | Hypolacrimia | oio:hasExactSynonym |
| Agenesis of permanent teeth (HP:0006349) | Missing permanent teeth | oio:hasExactSynonym |
| Fractured distal finger phalanx (HP:0041174) | Fractured distal phalanx of manus | oio:hasExactSynonym |
| Vesicoureteral reflux (HP:0000076) | VUR | oio:hasExactSynonym |
| Biceps tendonitis (HP:6001146) | Biceps tendinitis | oio:hasExactSynonym |
| Primum atrial septal defect (HP:0010445) | ostium primum ASD | oio:hasExactSynonym |
| Abnormal vestibular saccule morphology (HP:0030999) | Abnormal saccule morphology | oio:hasExactSynonym |
| Fractured middle finger phalanx (HP:0041236) | Fractured middle phalanx of manus | oio:hasExactSynonym |
| Pelvis fracture (HP:0041161) | Fractured pelvic region of trunk | oio:hasExactSynonym |
| Elbow medial collateral ligament tear (HP:6001133) | Ligamentous tear on the medial aspect of the elbow | oio:hasExactSynonym |
| Distal radioulnar joint arthritis (HP:6001130) | DRUJ arthritis | oio:hasExactSynonym |
| ... |
Contributors
matentzn
Assets 25
2024-08-13 Release
Content changes
Classes added: 273
| Term |
|---|
| Left ventricular rupture (HP:6001036) |
| Positive bloodstream cryptococcus culture (HP:6000906) |
| Reduced beta-hexosaminidase A activity (HP:0025754) |
| Tangential speech (HP:0025775) |
| Fetal methamphetamine exposure (HP:6000990) |
| Scalp edema (HP:6000959) |
| Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts (HP:6001023) |
| Longitudinal erythronychia (HP:6001074) |
| Idiosyncratic use of words (HP:0025774) |
| Circumscribed (HP:6001047) |
| Elevated urine hydroxyphenyllactic acid level (HP:6001004) |
| Subcortical U fiber lesion (HP:6000995) |
| Exposure to oily lotions or creams (HP:6001094) |
| Dorsal flexion contracture of the ankle (HP:6001097) |
| Radiodense (HP:0025790) |
| Decreased circulating transcobalamin I concentration (HP:6000967) |
| Delta brush pattern on EEG (HP:6001051) |
| Sweaty foot-like odor (HP:6001063) |
| Positive tissue coccidioidomycosis culture (HP:6000965) |
| Iliac vein compression (HP:6001099) |
| Postprandial exacerbation (HP:6000932) |
| Impaired hepatobiliary scintigraphy tracer uptake (HP:6000930) |
| Anti-HLA-DQ antibody positivity (HP:6001015) |
| History of aortic valve replacement (HP:6000983) |
| Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay (HP:6000901) |
| Ankle dislocation (HP:6001057) |
| Fractured scaphoid bone (HP:6001107) |
| Positive bloodstream EBV monospot test (HP:6000923) |
| Asymmetric blood pressure between legs (HP:0025750) |
| Nonrimmed muscule vacuoles (HP:6000978) |
| Elevated urine L-xylulose level (HP:0025742) |
| Positive tissue encapsulated budding yeast test (HP:6000964) |
| Diminished glomerular basement membrane collagen IV alpha 4 chain staining (HP:6001028) |
| Serpiginous burrow (HP:6000960) |
| Positive Vibrio cholerae stool culture (HP:6000904) |
| Elevated tissue arylsulfatase A activity (HP:6001112) |
| Positive urine anion gap (HP:0025763) |
| Diminished sulfotransferase activity in cultured fibroblasts (HP:6000970) |
| Hepatic cystine accumulation (HP:6001032) |
| Excessive diet restriction (HP:6001072) |
| Anti-DREBRIN antibody positivity (HP:6001059) |
| Abnormal vestibulo-spinal reflex (HP:6001104) |
| Abnormal change in sexual drive (HP:0025793) |
| Thickened cortex of the mandible (HP:6000937) |
| Mechanic's hands (HP:6001013) |
| Oral mucosa plaque (HP:6001110) |
| Echogenic fetal colon (HP:6000916) |
| Abnormal tissue alpha-N-acetylglucosaminidase activity (HP:6000972) |
| Reduced anterior scleral thickness (HP:0025751) |
| Out-toeing (HP:6001056) |
| Diminished circulating hyaluronidase activity (HP:6000969) |
| Prolonged retraction of penile foreskin (HP:6000935) |
| Reduced posterior scleral thickness (HP:0025752) |
| History of recent intermittent breastfeeding (HP:6001045) |
| Elevated urinary bile alcohol level (HP:6001007) |
| Exacerbated by exposure to sunlight (HP:6001075) |
| Asymmetric blood pressure between arms (HP:6000945) |
| Positive brain-tissue rabies nucleic acid test (HP:6000961) |
| Subdural hygroma (HP:6001070) |
| Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts (HP:6001024) |
| Anti-apolipoprotein CII autoantibody positivity (HP:6001061) |
| Intoeing (HP:6001054) |
| Elevated urine glucose tetrasaccharide level (HP:6001008) |
| Carotidynia (HP:6000944) |
| Ring-enhancing cerebral lesion (HP:0025738) |
| Elevated urine malic acid level (HP:6001000) |
| Brainstem lucency (HP:0025741) |
| Abnormal preoccupation (HP:0025785) |
| Reduced tissue neuraminidase activity (HP:6000911) |
| Positive probe-to-bone test (HP:6001105) |
| Single lesion (HP:6000914) |
| Positive bloodstream Borrelia miyamotoi nucleic acid test (HP:6000907) |
| Pupillary hypersensitivity to parasympathomimetic agents (HP:6000993) |
| Punctate pontine perivascular enhancement (HP:6001037) |
| Anti-lipoprotein lipase autoantibody positivity (HP:6001060) |
| Demonstration of acid-fast bacilli in wound tissue (HP:6000963) |
| Coved type ST segment elevation (HP:6000984) |
| Tibiotalar synostosis (HP:6001052) |
| Rapid gastric emptying (HP:6001017) |
| Radiolucent (HP:0025789) |
| Intestinal worm (HP:6001038) |
| Eggshell calcification of lymph nodes (HP:6001019) |
| Thumb hypoplasia grade 3B (HP:6000941) |
| Abnormal syntax (HP:0025782) |
| Left ventricular apical dyskinesis (HP:6001073) |
| Diminished urine glutamine level (HP:0025746) |
| Exposure to repetive hand impact (HP:6001106) |
| Anti-mumps antibody positivity (HP:6000903) |
| Thumb hypoplasia grade 3A (HP:6000940) |
| Elevated urinary mandelic acid (HP:6000999) |
| Elevated bone scintigraphy uptake (HP:6001022) |
| Dyschronometria (HP:6001044) |
| Thickened cortex of the clavicle (HP:6000936) |
| Substantially elevated circulating ethanol concentration (HP:6000986) |
| Metaphyseal undermodelling (HP:6001098) |
| Elevated urinary 2,4-dihydroxybutyric acid level (HP:6000992) |
| Eosinophilic neuronal inclusion bodies (HP:6001062) |
| Bone marrow cystine accumulation (HP:6001033) |
| Ruminations (HP:0025771) |
| Immobile lump (HP:0025760) |
| Saddle-back type ST segment elevation (HP:6000985) |
| Transverse terminal upper limb defect (HP:6000918) |
| Tortuous appearance of the stomach (HP:6000987) |
| Hemimelia of lower leg (HP:6000947) |
| Incus ankylosis (HP:6001071) |
| Vertebra plana (HP:6001053) |
| Positive mumps virus PCR test in the blood circulation (HP:6000900) |
| Elevated brain succinate level by MRS (HP:0025740) |
| Inability to puff cheeks (HP:6001102) |
| Conjunctival subepithelial fibrosis (HP:6001090) |
| Abnormal volitional state (HP:0025780) |
| Local anesthetic ineffectiveness (HP:6001108) |
| Positive respiratory tract Bordetella pertussis nucleic acid test (HP:6000962) |
| Elevated urinary 2-aminoisobutyric acid (HP:0025753) |
| Positive tuberculin skin test (HP:6000925) |
| Abnormal urine amino acid level (HP:0025745) |
| T2-hyperintense putaminal rim (HP:6001084) |
| Decreased T-cell ZAP-70 protein expression in CD4-positive T cells (HP:6001096) |
| Strong ultraviolet light exposure (HP:6001092) |
| Palmoplantar location (HP:6001109) |
| Muscle vacuoles (HP:6000977) |
| Dysorthography (HP:6000915) |
| Inappropriately low urine osmolality following challenge (HP:6001079) |
| Optic nerve mass (HP:0025739) |
| Thumb hypoplasia grade 4 (HP:6000942) |
| Subcutaneous emphysema (HP:6001021) |
| Positive CSF Toxoplasma gondii antibody positivity (HP:6000924) |
| Elevated urine 3-hydroxysebacic acid level (HP:6001001) |
| Tongue spasticity (HP:0025747) |
| Rubber-like lump (HP:0025765) |
| Abnormal subthalamic nucleus morphology (HP:0025737) |
| Posiitve skin scabies test (HP:6000899) |
| Disorder of thought content (HP:0025779) |
| Breath-holding spell (HP:6000950) |
| Restricted tongue movement (HP:0025748) |
| Whorled (HP:6001050) |
| Bone marrow hemophagocytosis (HP:6000980) |
| Reduced epidermal collagen IV alpha 5 chain staining (HP:6001026) |
| Irregular P-P interval (HP:6001087) |
| Intraosseous lipoma (HP:0025786) |
| Hiker's feet (HP:6001014) |
| Cystine nephrolithiasis (HP:6001031) |
| Anti-Treponema pallidum antibody positivity (HP:6000926) |
| Abnormal semantics (HP:0025773) |
| Inappropriate elation (HP:0025768) |
| Positive gastric CMV intranuclear inclusions (HP:6001005) |
| Triggered by high protein intake (HP:6001067) |
| Elevated urine dodecanedioic acid level (HP:0025744) |
| Elevated urine 4,5-dihydroxyhexanoic acid level (HP:6001003) |
| Abnormal positive emotional state (HP:0025767) |
| Painless mass (HP:0025761) |
| Elevated urinary adipic acid (HP:6001114) |
| Diminished tissue alpha-L-iduronidase activity (HP:6000910) |
| Fungal hair infection (HP:6001088) |
| Thought insertion (HP:0025776) |
| Characteristic of mass (HP:0025758) |
| Palpable thrill on extremity (HP:6001055) |
| Entoptic phenomenon (HP:6001103) |
| Elevated urinary vanillactic acid level (HP:6001002) |
| obsolete Peripheral nerve metachromasia (HP:6001030) |
| Diminished glomerular basement membrane collagen IV alpha 5 chain staining (HP:6001029) |
| Excessive piloerection (HP:6000958) |
| Craniocervical junction constriction (HP:6000920) |
| Splenic granulomatosis (HP:6000981) |
| Thought broadcasting (HP:0025777) |
| 2-3 finger osseus syndactyly (HP:0025770) |
| Scrotal worm (HP:6001039) |
| Hemimelia of forearm (HP:6000948) |
| Inappropriate normal or low erythropoietin (HP:6001016) |
| Thumb hypoplasia grade 2 (HP:6000939) |
| Conjunctival fornix foreshortening (HP:6001091) |
| Spiculated (HP:6001049) |
| Anti-acetylcholine receptor antibody positivity (HP:6001064) |
| Mediastinal lymph node calcification (HP:6001018) |
| Anti-neuronal intermediate filament antibody positivity (HP:6001058) |
| Liver rupture (HP:6000998) |
| Swelling of inguinal region (HP:6000913) |
| Erythema marginatum (HP:6001012) |
| Exacerbated by heat (HP:6001076) |
| Elevated circulating trihydroxycholestanoic acid concentration (HP:6000973) |
| Prolonged use of tightly fitting footwear (HP:6001066) |
| Twisted gallbladder pedicle (HP:6001042) |
| Diminished circulating cationic trypsinogen concentration (HP:6000968) |
| Abnormal nail surface (HP:0025757) |
| Exuberant granulation tissue (HP:6000956) |
| Diminished glomerular basement membrane collagen IV alpha 3 chain staining (HP:6001027) |
| Sorbitol ingestion (HP:6000953) |
| Positive serum amyloid P scintigraphy (HP:6001100) |
| Abnormal cognitive process (HP:0025792) |
| Irregular RR interval (HP:6001086) |
| Thought echo (HP:0025778) |
| Immediate detumescence of penis at time of symptom onset (HP:6000982) |
| Breast cyst (HP:6001046) |
| Maternal retinal mottling (HP:6001041) |
| Femoral osteopoikilosis (HP:6000943) |
| Asymmetric blood pressure between limbs (H... |
Contributors
matentzn, rays22, and LCCarmody
Assets 25
2024-07-01 Release
Content changes
- All mesh xref have been removed from HPO and added to an external mapping file, see https://obophenotype.github.io/human-phenotype-ontology/developers/mappings/.
Classes added: 115
| Term |
|---|
| Popcorn calcification (HP:6000871) |
| Elevated CSF 5-hydroxyindoleacetic acid concentration (HP:6000823) |
| Recent history of sedation by propofol infusion (HP:6000883) |
| Amyloid goiter (HP:6000815) |
| Eschar (HP:6000793) |
| Megacolon (HP:6000852) |
| Enlarged distal tibial epiphysis (HP:6000886) |
| Proximal radioulnar joint dislocation (HP:6000890) |
| Anti-DCC netrin 1 receptor antibody positivity (HP:6000881) |
| Periumbilical depression (HP:6000808) |
| Positive bloodstream HIV p24 antigen test (HP:6000798) |
| Gastric carcinoid tumor (HP:6000898) |
| Elevated circulating beta-glucuronidase activity (HP:6000819) |
| Positive Quantiferon tuberculosis test (HP:6000799) |
| Elevated urinary phosphohydroxylysine level (HP:6000806) |
| Positive lacrimal tract actinomyces culture (HP:6000792) |
| Elevated urine fructose level (HP:6000804) |
| Temporomandibular joint dislocation (HP:6000814) |
| Decreased circulating sulfate concentration (HP:6000854) |
| Pancreatic VIPoma (HP:6000897) |
| Beaded bile ducts (HP:6000846) |
| Thickened cortex of the ulna (HP:6000812) |
| Enlarged radial head (HP:6000885) |
| Toe hyperphalangy (HP:6000868) |
| Cerebrospinal fluid eosinophilia (HP:6000824) |
| Anti-dachshund family transcription factor 1 antibody positivity (HP:6000877) |
| Reduced C27 3beta-HSD activity in cultured fibroblasts (HP:6000825) |
| Elevated osmolality gap (HP:6000820) |
| Positive CSF mycobacterial culture (HP:6000835) |
| Cardiac mass (HP:6000847) |
| Nonexudative conjunctivitis (HP:6000843) |
| Symmetric distribution (HP:6000857) |
| Elevated urine bismuth level (HP:6000888) |
| Dermal foam cells (HP:6000859) |
| Exacerbated by pronation (HP:6000790) |
| Elevated circulating aspartate aminotransferase to alanine aminotransferase ratio (HP:6000813) |
| Long-bone fracture (HP:0025736) |
| Sclerotic ilium (HP:6000869) |
| Breast apocrine adenoma (HP:6000895) |
| Positive respiratory tract nucleic acid pathogen test (HP:6000836) |
| Hyperkalemia while symptomatic (HP:6000833) |
| Multiple eyelid beaded papules (HP:6000842) |
| Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test (HP:6000837) |
| Wide sacroiliac joint (HP:6000875) |
| Muscle extensor surface location (HP:6000858) |
| Thickened femoral cortex (HP:6000810) |
| Elevated blood bismuth concentration (HP:6000887) |
| Fibrocystic breast lesion (HP:6000896) |
| Delayed tibial epiphyseal ossification (HP:6000867) |
| Delayed ossification of the clavicle (HP:6000874) |
| Elevated urinary 2,8-dihydroxyadenine level (HP:6000803) |
| Diminished tissue glycogen branching enzyme activity (HP:6000861) |
| Thyroid cyst (HP:6000853) |
| Horizontal position of testicle (HP:6000839) |
| Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts (HP:6000830) |
| Gaucher cells (HP:6000893) |
| Basilar artery fenestration (HP:6000787) |
| Anti-potassium channel tetramerization domain containing 16 antibody positivity (HP:6000878) |
| Tzanck smear with multinucleated giant cells (HP:6000800) |
| Displacement of the extensor tendon in metacarpophalangeal joint (HP:6000788) |
| Metaphyseal chevron deformity (HP:6000870) |
| Reduced tissue peptidase D activity (HP:6000828) |
| Anti-Glutamate Receptor delta2 antibody positivity (HP:6000876) |
| Abnormal scleral thickness (HP:6000841) |
| Elevated urinary gamma-glutamylcysteine level (HP:6000834) |
| Thickened cortex of the radius (HP:6000811) |
| Anti-regulator of G protein signaling 8 antibody positivity (HP:6000879) |
| Cervical C6/C7 vertebrae fusion (HP:6000807) |
| Elevated serum-ascites albumin gradient (SAAG) (HP:6000863) |
| Distal radioulnar joint dislocation (HP:6000889) |
| Absent superficial temporal artery pulse (HP:6000786) |
| Absent toe phalanx flexion crease (HP:6000891) |
| Positive fecal cryptosporidium antigen test (HP:6000838) |
| Transverse terminal limb defect (HP:6000818) |
| Positive bloodstream rapid plasma reagin test (HP:6000797) |
| Reduced tissue phosphorylase kinase activity (HP:6000832) |
| Reduced tissue glycine cleavage enzyme activity (HP:6000829) |
| Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts (HP:6000826) |
| Hyperphalangy of the 4th finger (HP:6000865) |
| White matter globoid cells (HP:6000892) |
| Elevated circulating bile alcohol concentration (HP:6000821) |
| Bowdler spurs (HP:6000873) |
| Transverse smile (HP:6000864) |
| Positive Mazzotti test (HP:6000801) |
| Vascular compression of the eighth cranial nerve (HP:6000845) |
| Diminished tissue fumarylacetoacetate hydrolase activity (HP:6000827) |
| Breast adenoma (HP:6000894) |
| Heloma (HP:6000789) |
| Basilar meningeal enhancement (HP:6000851) |
| Aplasia/Hypoplasia of the calvaria (HP:6000872) |
| Delayed distal femoral epiphyseal ossification (HP:6000866) |
| Prominent lesser trochanter (HP:6000816) |
| Anti-neurochondrin antibody positivity (HP:6000880) |
| Cold intolerance (HP:6000855) |
| Nematode in retina (HP:6000844) |
| Diminished tissue very long-chain acyl-CoA dehydrogenase activity (HP:6000860) |
| Distortion of the anterior part of the interhemispheric fissure (HP:6000791) |
| Thickened tibial cortex (HP:6000809) |
| History of wearing tightly fitted clothing (HP:6000794) |
| Superior olive hypertrophy (HP:6000848) |
| Abnormal third cranial nerve morphology (HP:0025735) |
| Enlarged humeral head (HP:6000884) |
| Positive bloodstream Tropheryma whippelii nucleic acid test (HP:6000802) |
| Anti-recoverin antibody positivity (HP:6000882) |
| Temporal cortex localization (HP:6000850) |
| Increased circulating dihydroxycholestanoic acid concentration (HP:6000831) |
| Localized soft-tissue swelling on extremity (HP:6000840) |
| Head and neck distribution (HP:6000856) |
| Melorheostosis (HP:6000817) |
| Parotid adenoma (HP:6000862) |
| Elevated CSF tetrahydrobiopterin level (HP:6000822) |
| Anti-folate receptor antibody positivity (HP:6000795) |
| Elevated urinary uroporphyrin level (HP:6000805) |
| Positive bloodstream VDRL test (HP:6000796) |
| Spinal extradural arachnoid cyst (HP:6000849) |
Text definitions added: 115
| Term | New Text Definition |
|---|---|
| Popcorn calcification (HP:6000871) | Popcorn calcifications are areas of amorphous calcifications often with rings and arcs that resemble popped corn kernels in the metaphysis and epiphysis around the growth plate. |
| Elevated CSF 5-hydroxyindoleacetic acid concentration (HP:6000823) | The concentration of 5-hydroxyindoleacetic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal. |
| Recent history of sedation by propofol infusion (HP:6000883) | A history of exposure to anesthesia by propofanol infusion recently before the presenting complaint. |
| Amyloid goiter (HP:6000815) | Amyloidosis is defined as the accumulation of amorphous, proteinaceous material in different parts of the body. Amyloid can be deposited in the thyroid gland in such quantities to cause a clinically apparent enlargement of the gland known as Amyloid goiter. |
| Eschar (HP:6000793) | A type of wound characterized by dry, black, hard necrotic tissue. |
| Megacolon (HP:6000852) | Persistent and substantial increase in diameter diameter and length of the colon. |
| Enlarged distal tibial epiphysis (HP:6000886) | Size (volume) of the distal epiphysis of the tiba above the upper limit of normal. |
| Proximal radioulnar joint dislocation (HP:6000890) | he proximal radioulnar translocation means that both the radius and ulna are dislocated from the humerus. |
| Anti-DCC netrin 1 receptor antibody positivity (HP:6000881) | The presence of autoantibodies in the serum that react against Netrin-1 receptors DCC (deleted in colorectal carcinoma). |
| Periumbilical depression (HP:6000808) | The tissue that immediately surrounds the umbilicus is located below the normal plane of the abdomen. |
| Positive bloodstream HIV p24 antigen test (HP:6000798) | Demonstration of the p24 antigen of human immunodeficiency virus in the bloodstream. |
| Gastric carcinoid tumor (HP:6000898) | Originating from enterochromaffin-like cells, gastric carcinoid tumors are rare tumors that develop within the gastric mucosa. They can present as an isolated lesion or there can be multiple lesions. The tumor can invade locally into deeper structures of the gastrointestinal tract wall. Solitary gastric carcinoids have a greater chance for the development of malignancy and metastasis as compared to multiple gastric carcinoids due to hypergastrinemia. |
| Elevated circulating beta-glucuronidase activity (HP:6000819) | The activity of beta-glucuronidase (EC 3.2.1.31) in the blood circulation is above the upper limit of normal. |
| Positive Quantiferon tuberculosis test (HP:6000799) | A positive Quantiferon test result indicating Mycobacterium tuberculosis. The Quantiferon assay is designed to stimulate IFN-gamma release from CD4+ T cells in a single tuberculosis antigen tube using long peptides from three M. tuberculosis antigens. |
| Elevated urinary phosphohydroxylysine level (HP:6000806) | The amount of phosphohydroxylysine in the urine, normalized for urine concentration, is above the upper limit of normal. |
| Positive lacrimal tract actinomyces culture (HP:6000792) | Growth of Actinomyces israelii (anaerobic filamentous gram positive) culture of lacrimal discharge or concretions. |
| Elevated urine fructose level (HP:6000804) | Amount of fructose in the urine above the upper limit of normal. |
| ... |
Contributors
matentzn and rays22
Assets 25
2024-06-25 Release
Changes to HPO Content
Classes added: 85
| Term |
|---|
| Elevated urinary 4-tyramine level (HP:6000775) |
| Positive CSF treponemal antibody positivity (HP:6000767) |
| Premature glabellar skin wrinkling (HP:6000744) |
| Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity (HP:0025731) |
| Flexural reticulate hyperpigmentation (HP:6000745) |
| Elevated erythrocyte AICA-ribotide concentration (HP:6000752) |
| Dalen Fuchs nodules (HP:6000710) |
| Scalp nodule (HP:6000726) |
| Elevated circulating dimethyl sterol concentration (HP:6000754) |
| Elevated circulating 3-hydroxykynurenine concentration (HP:6000776) |
| Positive CSF human T-lymphotropic virus type I antibody positivity (HP:6000730) |
| Positive synovial mycobacterial culture (HP:6000734) |
| Positive mycobacterial synovial nucleic acid test (HP:6000735) |
| Reduced erythrocyte galactokinase activity (HP:6000723) |
| Abnormal social development (HP:0025732) |
| Triggering by ocular trauma (HP:6000711) |
| Paracentral hyper-autofluorecence (HP:6000769) |
| Decreased circulating pancreatic isoamylase activity (HP:6000721) |
| Decreased urinary creatine level (HP:6000748) |
| Olanzapine exposure (HP:6000780) |
| Elevated urinary 5-hydroxyindoleacetic acid level (HP:6000756) |
| Echophenomenon (HP:6000768) |
| Fixed fetal extremities (HP:6000770) |
| Abnormal peripapillary microvascular network (HP:6000771) |
| Reduced tissue guanidinoacetate methyltransferase activity (HP:6000722) |
| Decreased tissue S-adenosylhomocysteine hydrolase activity (HP:6000750) |
| Reduced tissue phosphomannose isomerase activity (HP:6000782) |
| Decreased CSF tetrahydrobiopterin level (HP:6000764) |
| Gelatinous drop-like dystrophic cornea (HP:6000712) |
| Anti-streptococcus deoxyribonuclease-B antibody positivity (HP:6000732) |
| Posiitive rubella CSF culture (HP:6000762) |
| Thickened fibular cortex (HP:6000705) |
| Decreased urinary dopamine level (HP:6000751) |
| Positive bloodstream influenza nucleic test (HP:6000737) |
| Axonal spheroids (HP:6000717) |
| Decreased CSF N-acetyl-aspartyl-glutamate concentration (HP:6000765) |
| Cone-shaped distal tibial epiphysis (HP:6000778) |
| Reduced tissue type II iodothyronine deiodinase activity (HP:6000719) |
| Maternal household cat exposure (HP:6000784) |
| Auriculitis (HP:6000772) |
| Positive CSF West Nile virus nucleic acid test (HP:6000759) |
| Positive chlamydia trachomatis urine nucleic acid test (HP:6000731) |
| Osteoporotic femoral neck (HP:6000779) |
| Auspitz sign (HP:6000724) |
| Central giant cell lesion of the jaw (HP:6000715) |
| Reduced tissue palmitoyl-protein thioesterase activity (HP:6000783) |
| Posterior vertebral body notching (HP:6000777) |
| Positive bloodstream babesia nucleic acid pathogen test (HP:6000736) |
| Positive bloodstream adenovirus nucleic acid test (HP:6000739) |
| Anti-Francisella tularensis antibody positivity (HP:6000740) |
| Elevated circulating monomethyl sterol concentration (HP:6000753) |
| Decreased liver bile salt export pump expression (HP:6000718) |
| Elevated circulating thiosulfate concentration (HP:6000757) |
| Streak gonad (HP:0025733) |
| Positive CSF fungus test (HP:6000729) |
| Elevated circulating C-terminal fibroblast growth factor 23 concentration (HP:6000755) |
| History of undercooked pork ingestion (HP:6000727) |
| Absent Bell phenomenon (HP:6000709) |
| Salty tasting skin (HP:6000725) |
| Positive bloodstream parainfluenza virus nucleic acid test (HP:6000738) |
| Elevated circulating type I procollagen aminoterminal propeptide concentration (HP:6000749) |
| Elevated fractional excretion of urate (HP:6000746) |
| Positive CSF herpes simplex virus nucleic acid test (HP:6000760) |
| Positive CSF Tropheryma whipplei bacteria microscopy (HP:6000766) |
| Reduced epidermal kindlin-1 expression (HP:6000714) |
| Elevated urinary 5-hydroxyhexanoic acid level (HP:0025734) |
| Femoral osteosclerosis (HP:6000708) |
| Abnormal urinary creatine level (HP:6000747) |
| Terminal hepatic lobular vascular occlusion (HP:6000716) |
| Positive CSF cryptococcal antigen test (HP:6000761) |
| New medication added in recent weeks (HP:6000706) |
| Hepatic reticuloendothelial system cell iron deposition (HP:6000713) |
| Reduced tissue phosphomannomutase activity (HP:6000781) |
| Protein craving (HP:6000785) |
| Reduced tissue fatty aldehyde dehydrogenase activity (HP:6000720) |
| Pediculosis capitis (HP:6000743) |
| Noctural pain (HP:6000707) |
| History of recent trauma to external ear canal (HP:6000774) |
| Positive CSF treponema pallidum nucleic acid test (HP:6000763) |
| Positive bloodstream MERS coronavirus nucleic acid test (HP:6000741) |
| History of recent rodent exposure (HP:6000728) |
| Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test (HP:6000742) |
| Elevated circulating interleukin 1 receptor antagonist concentration (HP:6000758) |
| Recent history of moisture in external ear canal (HP:6000773) |
| Positive streptococcus A rapid antigen detection test (HP:6000733) |
Synonyms added: 70
| Term | New Synonym | Predicate |
|---|---|---|
| Positive CSF treponemal antibody positivity (HP:6000767) | Positive Fluorescent treponemal antibody absorption | oio:hasExactSynonym |
| Positive CSF treponemal antibody positivity (HP:6000767) | Positive Treponema pallidum hemoagglutination assay | oio:hasExactSynonym |
| Positive CSF treponemal antibody positivity (HP:6000767) | Positive Treponema pallidum particle agglutination test | oio:hasExactSynonym |
| Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity (HP:0025731) | Anti-GPIHBP1 antibody positivity | oio:hasExactSynonym |
| Flexural reticulate hyperpigmentation (HP:6000745) | Reticular pigmented anomaly of the flexures | oio:hasExactSynonym |
| Flexural reticulate hyperpigmentation (HP:6000745) | Reticulate hyperpigmentation of the flexures | oio:hasExactSynonym |
| Scalp nodule (HP:6000726) | Scalp nodules | oio:hasExactSynonym |
| Hyperautofluorescent retinal lesion (HP:0025158) | Retinal lipofuscin accumulation | oio:hasRelatedSynonym |
| Positive CSF human T-lymphotropic virus type I antibody positivity (HP:6000730) | Positive CSF HTLV-1 antibody positivity | oio:hasExactSynonym |
| Decreased facial expression mirroring (HP:5200220) | Decreased facial expression reciprocity | oio:hasExactSynonym |
| Delayed upper limb epiphyseal ossification (HP:0003840) | Delayed maturation of the end part of the upper limb bone | oio:hasRelatedSynonym |
| Hip dislocation (HP:0002827) | Dislocated femoral heads | oio:hasExactSynonym |
| Hip dislocation (HP:0002827) | Dislocation of the femoral head | oio:hasExactSynonym |
| Crumpled ear (HP:0009901) | Cauliflower ear | oio:hasBroadSynonym |
| Mirror image hand polydactyly (HP:0010690) | Mirror image duplication of fingers | oio:hasExactSynonym |
| Facial hyperostosis (HP:0005465) | Enlargement of the facial bones | oio:hasExactSynonym |
| Reduced responsiveness to social cues (HP:5200028) | Lack of response to verbal cues | oio:hasNarrowSynonym |
| Reduced responsiveness to social cues (HP:5200028) | Reduced responsiveness to verbal cues | oio:hasNarrowSynonym |
| Anterior tibial bowing (HP:0006390) | Saber shin | oio:hasExactSynonym |
| Anterior tibial bowing (HP:0006390) | Saber tibia | oio:hasExactSynonym |
| Anterior tibial bowing (HP:0006390) | Sabre shin | oio:hasExactSynonym |
| Mirror image foot polydactyly (HP:0010691) | Mirror image duplication of toes | oio:hasExactSynonym |
| Optic nerve hypoplasia (HP:0000609) | Double ring sign | oio:hasRelatedSynonym |
| Frontal bossing (HP:0002007) | Frontal protuberance | oio:hasExactSynonym |
| Elevated circulating phosphoethanolamine concentration (HP:0033406) | Elevated circulating o-phosphoethanolamine concentration | oio:hasExactSynonym |
| Ectopic thyroid (HP:0100028) | Abnormal thyroid location | oio:hasExactSynonym |
| Reduced social responsiveness (HP:0012760) | Reduced social reciprocity | oio:hasNarrowSynonym |
| Thickened fibular cortex (HP:6000705) | Broad cortex of fibula | oio:hasExactSynonym |
| Thickened fibular cortex (HP:6000705) | Cortical thickening of the fibula | oio:hasExactSynonym |
| Thickened fibular cortex (HP:6000705) | Thickened cortex of the fibula | oio:hasExactSynonym |
| Thickened fibular cortex (HP:6000705) | Thickened cortices of fibula | oio:hasExactSynonym |
| Non-infectious meningitis (HP:0033430) | Aseptic meningitis | oio:hasExactSynonym |
| Auriculitis (HP:6000772) | Auricular inflammation | oio:hasExactSynonym |
| Osteoporotic femoral neck (HP:6000779) | Osteoporosis of femoral neck | oio:hasExactSynonym |
| Abnormal lung morphology (HP:0002088) | Unusual lung shape | oio:hasExactSynonym |
| Poor head control (HP:0002421) | Delay in head control | oio:hasExactSynonym |
| Poor head control (HP:0002421) | Delay in head righting | oio:hasExactSynonym |
| Poor head control (HP:0002421) | Infant head lag | oio:hasExactSynonym |
| Heavy proteinuria (HP:0012597) | Severely high blood protein levels | oio:hasExactSynonym |
| Duplicated tragus (HP:0011270) | Accessory tragus | oio:hasExactSynonym |
| Abnormal circulating vitamin B6 concentration (HP:0032476) | Abnormal circulating pyridoxal 5'-phosphate concentration | oio:hasNarrowSynonym |
| Positive urine cannabinoid test (HP:0500110) | Positive urine pot test | oio:hasExactSynonym |
| Absent Bell phenomenon (HP:6000709) | Absent palpebral-oculogyric reflex | oio:hasExactSynonym |
| Bent long bone (HP:0034530) | Angulated long bone | oio:hasExactSynonym |
| Elevated fractional excretion of urate (HP:6000746) | Uric acid wasting | oio:hasExactSynonym |
| Abnormal glycosidase enzyme activity (HP:0003649) | Abnormality of g... |
Contributors
pnrobinson, cmdcolin, and matentzn
Assets 25
2024-04-26 Release
New features
- Bugfix logical axioms in HPO
- Bugfix in HPOA which had missing relations
New content
Synonyms added: 7
| Term | New Synonym | Predicate |
|---|---|---|
| Amplification of relationship seeking (HP:5200315) | Increased seeking of relationships | oio:hasExactSynonym |
| Amplification of interpersonal communication (HP:5200311) | Increase in interpersonal communication | oio:hasExactSynonym |
| Amplification of emotional responsiveness (HP:5200323) | Increase in emotional responsiveness | oio:hasExactSynonym |
| Amplification of social interactions (HP:5200212) | Increase in social interactions | oio:hasExactSynonym |
| Amplification of sexual behavior (HP:5200321) | Increase in sexual behavior | oio:hasExactSynonym |
| Amplification of emotional expression (HP:5200322) | Increase in emotional expression | oio:hasExactSynonym |
| Amplification of comfort with casual physical contact (HP:5200325) | Increase in comfort with casual physical contact | oio:hasExactSynonym |
Nodes renamed: 7
| ID | Old Label | New Label |
|---|---|---|
| HP:5200315 | Increased seeking of relationships | Amplification of relationship seeking |
| HP:5200311 | Increase in interpersonal communication | Amplification of interpersonal communication |
| HP:5200323 | Increase in emotional responsiveness | Amplification of emotional responsiveness |
| HP:5200212 | Increase in social interactions | Amplification of social interactions |
| HP:5200321 | Increase in sexual behavior | Amplification of sexual behavior |
| HP:5200322 | Increase in emotional expression | Amplification of emotional expression |
| HP:5200325 | Increase in comfort with casual physical contact | Amplification of comfort with casual physical contact |
Full Changelog: v2024-04-19...v2024-04-26
2024-04-19 Release
New features
This hot-fix release fixes an error where certain genes were missing from the HPOA files.
Content changes
Synonyms added: 7
| Term | New Synonym | Predicate |
|---|---|---|
| Amplification of relationship seeking (HP:5200315) | Increased seeking of relationships | oio:hasExactSynonym |
| Amplification of interpersonal communication (HP:5200311) | Increase in interpersonal communication | oio:hasExactSynonym |
| Amplification of emotional responsiveness (HP:5200323) | Increase in emotional responsiveness | oio:hasExactSynonym |
| Amplification of social interactions (HP:5200212) | Increase in social interactions | oio:hasExactSynonym |
| Amplification of sexual behavior (HP:5200321) | Increase in sexual behavior | oio:hasExactSynonym |
| Amplification of emotional expression (HP:5200322) | Increase in emotional expression | oio:hasExactSynonym |
| Amplification of comfort with casual physical contact (HP:5200325) | Increase in comfort with casual physical contact | oio:hasExactSynonym |
Nodes renamed: 7
| ID | Old Label | New Label |
|---|---|---|
| HP:5200315 | Increased seeking of relationships | Amplification of relationship seeking |
| HP:5200311 | Increase in interpersonal communication | Amplification of interpersonal communication |
| HP:5200323 | Increase in emotional responsiveness | Amplification of emotional responsiveness |
| HP:5200212 | Increase in social interactions | Amplification of social interactions |
| HP:5200321 | Increase in sexual behavior | Amplification of sexual behavior |
| HP:5200322 | Increase in emotional expression | Amplification of emotional expression |
| HP:5200325 | Increase in comfort with casual physical contact | Amplification of comfort with casual physical contact |
Full Changelog: v2024-04-04...v2024-04-19
2024-04-04 Release
WARNING
This release has some issues with the HPOA files (the annotations), use https://github.com/obophenotype/human-phenotype-ontology/releases/tag/v2024-04-19 instead.
Content changes
Classes added: 22
| Term |
|---|
| Low tissue ferrochelatase activity (HP:6000697) |
| Low tissue ferrochelatase activity (HP:6000697) |
| Elevated urinary bile acid level (HP:6000701) |
| Elevated urinary bile acid level (HP:6000701) |
| Reduced breast milk zinc concentration (HP:6000700) |
| Reduced breast milk zinc concentration (HP:6000700) |
| Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration (HP:6000696) |
| Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration (HP:6000696) |
| Elevated urinary glyoxylic acid level (HP:6000702) |
| Elevated urinary glyoxylic acid level (HP:6000702) |
| Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity (HP:6000695) |
| Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity (HP:6000695) |
| Elevated circulating heptacarboxylporphyrin concentration (HP:6000698) |
| Elevated circulating heptacarboxylporphyrin concentration (HP:6000698) |
| Elevated circulating 1-pyrroline-5-carboxylic acid acid concentration (HP:6000694) |
| Elevated circulating 1-pyrroline-5-carboxylic acid acid concentration (HP:6000694) |
| Elevated circulating 3-hydroxyanthranilic acid concentration (HP:6000703) |
| Elevated circulating 3-hydroxyanthranilic acid concentration (HP:6000703) |
| Elevated circulating CXCL9 concentration (HP:6000704) |
| Elevated circulating CXCL9 concentration (HP:6000704) |
| Aggravated by menstruation (HP:6000699) |
| Aggravated by menstruation (HP:6000699) |
Text definitions added: 11
| Term | New Text Definition |
|---|---|
| Low tissue ferrochelatase activity (HP:6000697) | Concentration or activity of Ferrochelatase (FECH; EC 4.99.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. FECH is the terminal enzyme of the heme biosynthetic pathway, and catalyzes the insertion of iron into protoporphyrin to form heme. |
| Elevated urinary bile acid level (HP:6000701) | The amount of bile acid in the urine, normalized for urine concentration, is above the upper limit of normal. |
| Reduced breast milk zinc concentration (HP:6000700) | The concentration of zink in breast milk is below the lower limit of normal. |
| Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration (HP:6000696) | The concentration of N-carbamyl-beta-aminoisobutyric acid in the blood circulation is above the upper limit of normal. |
| Elevated urinary glyoxylic acid level (HP:6000702) | The amount of glyoxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. The conjugate base of glyoxylic acid is known as glyoxylate. |
| Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity (HP:6000695) | Concentration or activity of delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDH; EC 1.5.1.12) below the lower limit of normal. P5CDH can be measured in multiple tissues including leukocytes and cultured fibroblasts. P5CDH is a mitochondrial matrix NAD(+)-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. |
| Elevated circulating heptacarboxylporphyrin concentration (HP:6000698) | The concentration of heptacarboxylporphyrin in the blood circulation is above the upper limit of normal. |
| Elevated circulating 1-pyrroline-5-carboxylic acid acid concentration (HP:6000694) | The concentration of delta-1-pyrroline-5-carboxylate in the blood circulation is above the upper limit of normal. |
| Elevated circulating 3-hydroxyanthranilic acid concentration (HP:6000703) | The concentration of 3-hydroxyanthranilic acid in the blood circulation is above the upper limit of normal. |
| Elevated circulating CXCL9 concentration (HP:6000704) | The concentration of chemokine (C-X-C motif) ligand 9 in the blood circulation is above the upper limit of normal. |
| Aggravated by menstruation (HP:6000699) | Applied to a sign or symptom that is more severe during mensutruation. |
Nodes removed: 3
| Term |
|---|
| part_of |
| inheres_in |
| inheres_in_part_of |
Synonyms added: 5
| Term | New Synonym | Predicate |
|---|---|---|
| Elevated urinary glyoxylic acid level (HP:6000702) | Elevated urinary alpha-ketoacetic acid level | oio:hasExactSynonym |
| Elevated urinary glyoxylic acid level (HP:6000702) | Elevated urinary glyoxylate level | oio:hasExactSynonym |
| Elevated urinary glyoxylic acid level (HP:6000702) | Elevated urinary oxoacetic acid level | oio:hasExactSynonym |
| Elevated circulating 1-pyrroline-5-carboxylic acid acid concentration (HP:6000694) | Elevated circulating delta-1-pyrroline-5-carboxylate concentration | oio:hasExactSynonym |
| Elevated circulating CXCL9 concentration (HP:6000704) | Elevated circulating monokine induced by gamma-interferon concentration | oio:hasExactSynonym |
Text definitions changed: 1
| Term | Old Text Definition | New Text Definition |
|---|---|---|
| Anti-perilipin-1 antibody positivity (HP:6000380) | A pulmonary cavity is a gas-filled area of the lung in the center of a nodule or area of consolidation and may be clinically observed by use of plain chest radiography or computed tomography. Cavities are present in a wide variety of infectious and noninfectious processes. | The presence of autoantibodies in the serum that react against perilipin-1 (PLIN1). |
Nodes renamed: 1
| ID | Old Label | New Label |
|---|---|---|
| HP:6000380 | CHANGE ME | Anti-perilipin-1 antibody positivity |
Relationships removed: 1
| Subject | Predicate | Object |
|---|---|---|
| Anti-perilipin-1 antibody positivity (HP:6000380) | subClassOf (rdfs:subClassOf) | Abnormal location of ears (HP:0000357) |
What's Changed
New Contributors
Full Changelog: v2024-04-03...v2024-04-04
Contributors
hrshdhgd
Assets 25
2024-04-03 Release
WARNING
This release has some issues with the HPOA files (the annotations), use https://github.com/obophenotype/human-phenotype-ontology/releases/tag/v2024-04-19 instead.
New features:
- All HPO labels and definitions have been normalised to American English. British English synonyms have been added systematically
New and updated content
Classes added: 466
| Term |
|---|
| Elevated erythrocyte galactose-1-phosphate concentration (HP:6000610) |
| Positive CSF varicella zoster antibody positivity (HP:0430141) |
| Elevated circulating lipoprotein X concentration (HP:6000566) |
| Low serum osmolality (HP:6000680) |
| PAS-positive lymphocyte vacuolization (HP:6000639) |
| Elevated urinary quinolinic acid level (HP:6000335) |
| Anti-intrinsic factor antibody positivity (HP:6000344) |
| Reduced circulating insulin-like growth factor 2 concentration (HP:6000404) |
| Elevated urinary 2-oxoisocaproic level (HP:6000599) |
| 3-5 finger cutaneous syndactyly (HP:6000505) |
| Elevated urine propionic acid level (HP:6000432) |
| Elevated urinary 3-hydroxyadipic acid level (HP:6000609) |
| Reduced tissue arginine:glycine amidinotransferase activity (HP:6000572) |
| Proximal to distal progression (HP:6000305) |
| Positive Mycobacterium avium sputum culture (HP:0430108) |
| Glomerular PLA2R immune-complex deposition (HP:6000669) |
| Elevated urine hyaluronic acid level (HP:6000391) |
| Elevated urinary N-methylhistamine level (HP:6000533) |
| Positive CSF VDRL test (HP:6000395) |
| Umbilical cord prolapse (HP:6000329) |
| Short esophagus (HP:6000382) |
| Positive oropharynx poliovirus nucleic acid test (HP:6000580) |
| Right ventricular regional akinesia (HP:6000665) |
| Abnormal circulating interleukin 12 concentration (HP:6000442) |
| Retroperitoneal mass (HP:6000285) |
| Anti-factor VIII antibody positivity (HP:6000494) |
| Reduced erythrocyte hexokinase activity (HP:6000559) |
| Mesenteric torsion (HP:6000632) |
| Mitral opening snap (HP:6000685) |
| Elevated circulating C12 acylcarnitine concentration (HP:0430143) |
| Reduced circulating interleukin 12 concentration (HP:6000487) |
| Elevated urinary 2-oxovaleric acid level (HP:6000600) |
| Positive Bartonella henselae nucleic acid test in the blood circulation (HP:6000550) |
| Prevertebral space enlargement (HP:6000290) |
| Reduced tissue mannosyl-oligosaccharide glucosidase activity (HP:6000576) |
| Bone marrow monocytosis (HP:6000641) |
| Ectopic testis (HP:6000460) |
| Paravertebral mass (HP:6000660) |
| Elevated CSF 14-3-3 protein concentration (HP:6000689) |
| Positive synonvial fluid infectious agent test (HP:6000581) |
| Occipital cortex localization (HP:0430132) |
| Flank mass (HP:6000363) |
| Excessive blood loss during delivery (HP:6000325) |
| Retracted tympanic membrane (HP:6000459) |
| Mosaic attenuation pattern in lung (HP:6000317) |
| Spinal lipoma (HP:6000590) |
| Decreased circulating carboxypeptidase N activity (HP:6000560) |
| Anti-factor V antibody positivity (HP:6000492) |
| Squamosal suture synostosis (HP:6000612) |
| Exposure to cosmetic fragrances (HP:6000636) |
| Nasal secretion eosinophilia (HP:0430119) |
| Elevated circulating ghrelin concentration (HP:6000436) |
| Increased circulating interleukin 1beta concentration (HP:6000374) |
| Decreased FOXP3-expressing T cell count (HP:6000473) |
| Abnormal circulating CC chemokine concentration (HP:6000446) |
| Elevated circulating vasoactive intestinal peptide concentration (HP:6000564) |
| Perimenopausal onset (HP:6000314) |
| Elevated urine N-acetyltyrosine level (HP:6000479) |
| Positive synonvial fluid culture (HP:6000582) |
| Sulfur-containing abscess (HP:6000458) |
| Radioulnar subluxation (HP:6000506) |
| Bloodstream Malaria parasite (HP:6000553) |
| Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine (HP:6000330) |
| Elevated urinary coproporphyrin level (HP:6000536) |
| Elevated urinary beta-alanine level (HP:6000276) |
| Antiparietal cell antibody positivity (HP:6000343) |
| Positive CSF JC-virus nucleic acid test (HP:6000552) |
| Recent temporal region trauma (HP:6000626) |
| Temporal artery giant cells (HP:6000618) |
| Elevated urine trihydroxycholestanoic acid level (HP:6000393) |
| Past surgical history (HP:0430103) |
| Positive bloodstream Cysticercosis antigen test (HP:0430110) |
| Elevated urinary methylmalonylcarnitine level (HP:6000392) |
| Seminal vesicle agenesis (HP:0430121) |
| Reduced muscle glycogen debrancher enzyme activity (HP:6000616) |
| Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts (HP:6000426) |
| Scalloped appearance of liver surface (HP:6000628) |
| Reduced erythrocyte inosine triphosphatase activity (HP:6000511) |
| Duplicate uterine cervix (HP:6000414) |
| Anti-factor X antibody positivity (HP:6000496) |
| Reduced tissue carnitine-acylcarnitine translocase activity (HP:6000574) |
| Bone arteriovenous malformation (HP:6000587) |
| Increased circulating interleukin 15 concentration (HP:6000439) |
| Anti-ADAMTS13 antibody positivity (HP:6000462) |
| Right ventricular regional wall motion abnormality (HP:6000664) |
| Left atrial fibrosis (HP:6000691) |
| Reduced tissue medium-chain acyl-CoA dehydrogenase activity (HP:6000356) |
| Elevated urinary pyrroline hydroxycarboxylic acid level (HP:6000620) |
| Muscle arteriovenous malformation (HP:6000586) |
| Elevated urinary histamine level (HP:6000532) |
| Reduced neutrophil myeloperoxidase activity (HP:6000375) |
| Reduced tissue aspartylglucosaminidase activity (HP:6000573) |
| Positive human Immunodeficiency virus nucleic acid test in the blood circulation (HP:6000546) |
| Elevated urinary 3-hydroxypentanoic acid level (HP:6000604) |
| Antistreptolysin O antibody positivity (HP:6000348) |
| Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity (HP:6000555) |
| Anti-beta fodrin antibody positivity (HP:6000475) |
| High serum osmolality (HP:6000681) |
| Elevated circulating complement C3 concentration (HP:0430146) |
| Abnormal serum osmolality (HP:6000679) |
| Elevated urinary ureidopropionic acid level (HP:6000534) |
| Anti-factor H antibody positivity (HP:6000499) |
| 4-5 toe cutaneous syndactyly (HP:6000503) |
| Ovarian cystadenoma (HP:6000672) |
| Elevated CSF cystathionine concentration (HP:6000280) |
| Maxillary cyst (HP:6000594) |
| History of facial cosmetic use (HP:6000297) |
| Tectal plate enlargement (HP:6000284) |
| Meteorism (HP:6000319) |
| Elevated urine manganese level (HP:6000480) |
| Primary peritoneal serous papillary adenocarcinoma (HP:0430116) |
| Reduced urinary iodine level (HP:6000438) |
| Abnormal circulating interleukin 6 concentration (HP:6000441) |
| Fetal oral mass (HP:6000470) |
| Elevated urinary N-carbamoyl-beta-alanine level (HP:6000279) |
| Ductus venosus agenesis with intrahepatic drainage (HP:6000369) |
| Thickened Descemet membrane (HP:6000312) |
| Orbital inflammation (HP:6000614) |
| Lipid-laden bone-marrow macrophages (HP:6000640) |
| Anti-lamin C antibody positivity (HP:6000644) |
| Elevated blood cadmiun concentration (HP:6000444) |
| Elevated urinary L-glycerate level (HP:6000670) |
| Poly-hill sign (HP:6000504) |
| Positive CSF arbovirus nucleic acid test (HP:6000549) |
| Tympanic membrane bulla (HP:6000422) |
| Anti-von Willebrand factor antibody positivity (HP:6000676) |
| Elevated circulating beta chorionic gonadotropin concentration (HP:6000485) |
| Anti-factor XI antibody positivity (HP:6000497) |
| Positive stool Giardia antigen test (HP:6000324) |
| Elevated tissue sphingomyelin concentration (HP:6000292) |
| Phlebolith (HP:6000661) |
| Gastrocnemius contracture (HP:6000366) |
| Femoral neck fracture (HP:6000655) |
| Burning eye sensation (HP:6000420) |
| Elevated urinary N-tau-ribosylhistidine level (HP:6000621) |
| Low maternal vitamin B12 concentration (HP:6000518) |
| Breast myxoma (HP:6000671) |
| Absent zona pellucida (HP:6000328) |
| Incomplete right bundle branch block (HP:6000313) |
| Elevated muscle fiber laminin alpha 5 expression (HP:6000659) |
| Positive skin infectious agent test (HP:0430117) |
| Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells (HP:6000472) |
| Sweating and flushing in the preauricular area in response to mastication (HP:6000637) |
| Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts (HP:6000619) |
| Elevated circulating inhibin A concentration (HP:6000519) |
| Elevated urine 3-methyladipic acid level (HP:6000466) |
| Non-glucose reducing substance in urine (HP:6000389) |
| Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts (HP:6000427) |
| History of recent stay in area with inadequate sewage sanitation (HP:6000540) |
| Skip lesions on temporal artery biopsy (HP:0430105) |
| Parietal cortex localization (HP:0430131) |
| Elevated urinary 2-methyl-3-hydroxybutyric acid level (HP:6000603) |
| Decreased skin turgor (HP:6000303) |
| 3-4 toe cutaneous syndactyly (HP:6000648) |
| Thoracic cage flatness (HP:6000327) |
| Positive bloodstream infectious agent antigen test (HP:0430109) |
| Postmenopausal onset (HP:6000315) |
| Head impulse test has corrective saccade (HP:0430122) |
| Positive skin fungus test (HP:0430118) |
| Gallbladder adhesions (HP:6000452) |
| Diminished circulating reduced nicotinamide adenine dinucleotide (NADH) concentration (HP:6000406) |
| Posterior fossa localization (HP:0430129) |
| Abnormal circulating hepatic transaminase concentration (HP:0430135) |
| Reduced tissue tissue AICAR transformylase activity (HP:6000349) |
| Cardiac valve vegetations (HP:6000326) |
| Synovial cyst (HP:6000364) |
| Reduced sympathoneural responses to the cold pressor test (HP:6000323) |
| Nasal secretion neutrophilia (HP:0430120) |
| Decreased circulating cat... |
Contributors
matentzn and LCCarmody
Assets 25
2024-03-06 Release
New Content
List of new terms
| term id | term label |
|---|---|
| HP:6000347 | Anti-NR2A antibody positivity |
| HP:6000346 | Anti-polio virus antibody positivity |
| HP:6000345 | Anti-human immunodeficiency virus antibody positivity |
| HP:6000344 | Anti-intrinsic factor antibody positivity |
| HP:6000351 | Anti-coagulation factor antibody positivity |
| HP:6000350 | Ameliorated by gastric acid-reducing therapy |
| HP:6000349 | Reduced tissue tissue AICAR transformylase activity |
| HP:6000348 | Antistreptolysin O antibody positivity |
| HP:6000339 | Small fetal abdominal circumference |
| HP:6000338 | Seminal vesicle hypoplasia |
| HP:6000337 | Thinned small intestinal mucosa |
| HP:6000336 | Rectal duplication |
| HP:6000343 | Antiparietal cell antibody positivity |
| HP:6000342 | Thickened mitral valve cusp |
| HP:6000341 | Snowflake effect in amniotic cavity |
| HP:6000340 | Prenatal flattened diaphragm |
| HP:6000331 | Elevated urinary thymine level |
| HP:6000330 | Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine |
| HP:6000329 | Umbilical cord prolapse |
| HP:6000328 | Absent zona pellucida |
| HP:6000335 | Elevated urinary quinolinic acid level |
| HP:6000334 | Reduced hepatic ornithine transcarbamylase activity |
| HP:6000333 | Reduced hepatic phosphorylase kinase activity |
| HP:6000332 | Elevated urinary indoleacetic acid level |
| HP:6000323 | Reduced sympathoneural responses to the cold pressor test |
| HP:6000322 | Absent axon flare response after intradermal histamine injection |
| HP:6000321 | Labile Hypertension |
| HP:6000320 | Failure to elevate ammonia on ischemic exercise |
| HP:6000327 | Thoracic cage flatness |
| HP:6000326 | Cardiac valve vegetations |
| HP:6000325 | Excessive blood loss during delivery |
| HP:6000324 | Positive stool Giardia antigen test |
| HP:6000379 | Pancreatic arteriovenous malformation |
| HP:6000378 | Delayed scintigraphic gallbladder filling |
| HP:6000377 | Intramural intestinal gas |
| HP:6000376 | Jugular foramen stenosis |
| HP:6000383 | Gastric perforation |
| HP:6000382 | Short esophagus |
| HP:6000381 | Splenic calcification |
| HP:6000380 | CHANGE ME |
| HP:6000371 | Elevated circulating D-glyceric concentration |
| HP:6000370 | Ductus venosus agenesis with extrahepatic drainage and liver bypass |
| HP:6000369 | Ductus venosus agenesis with intrahepatic drainage |
| HP:6000368 | Sonographic renal salt and pepper pattern |
| HP:6000375 | Reduced neutrophil myeloperoxidase activity |
| HP:6000374 | Increased circulating interleukin 1beta concentration |
| HP:6000373 | Ameliorated by riboflavin |
| HP:6000372 | Elevated CSF D-glyceric acid concentration |
| HP:6000363 | Flank mass |
| HP:6000362 | Blunted aldosterone response to aldosterone suppression test |
| HP:6000361 | Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts |
| HP:6000360 | Reduced tissue alpha-N-acetylglucosaminidase activity |
| HP:6000367 | Central thinning of the outer nuclear layer of the retina |
| HP:6000366 | Gastrocnemius contracture |
| HP:6000365 | Brown pigmentation of the conjunctiva |
| HP:6000364 | Synovial cyst |
| HP:6000355 | Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts |
| HP:6000354 | Reduced aspartoacylase activity in cultured fibroblasts |
| HP:6000353 | Reduced tissue argininosuccinate synthetase activity |
| HP:6000352 | Tachyphagia |
| HP:6000359 | Reduced muscle 6-phosphofructokinase activity |
| HP:6000358 | Reduced muscle glycogen phosphorylase activity |
| HP:6000357 | Reduced cystathionine beta-synthase activity in cultured fibroblasts |
| HP:6000356 | Reduced tissue medium-chain acyl-CoA dehydrogenase activity |
| HP:6000283 | Elevated urinary saccharopine level |
| HP:6000282 | Elevated circulating aspartylglucosamine concentration |
| HP:6000281 | Elevated urinary gamma-glutamylphenylalanine level |
| HP:6000280 | Elevated CSF cystathionine concentration |
| HP:6000287 | Subchondral fracture |
| HP:6000286 | Focal T1 hyperintense brainstem lesion |
| HP:6000285 | Retroperitoneal mass |
| HP:6000284 | Tectal plate enlargement |
| HP:6000279 | Elevated urinary N-carbamoyl-beta-alanine level |
| HP:6000278 | Elevated circulating 2-aminoadipic acid concentration |
| HP:6000277 | Elevated CSF beta-alanine concentration |
| HP:6000276 | Elevated urinary beta-alanine level |
| HP:6000315 | Postmenopausal onset |
| HP:6000314 | Perimenopausal onset |
| HP:6000313 | Incomplete right bundle branch block |
| HP:6000312 | Thickened Descemet membrane |
| HP:6000319 | Meteorism |
| HP:6000318 | Elevated aldosterone:renin ratio |
| HP:6000317 | Mosaic attenuation pattern in lung |
| HP:6000316 | Spastic monoplegia |
| HP:6000307 | Jaw mass |
| HP:6000306 | Autonomic-voluntary dissociation of facial movements ... |
Contributors
matentzn and LCCarmody