Disease overview
Alterations
49
Molecular (A)
0
Clinical (B–E)
49
Direct drugs
0
Via biomarker
0
Natural agents
0
Natural products
0
Merged ranked
0
Alterations
49 total · Types A (molecular) through E (functional)
| Name | Type | Subtype | Direction | Frequency | Evidence | Sources | Links |
|---|---|---|---|---|---|---|---|
| Abnormal abdomen morphology | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Anteverted nares | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Aplasia/Hypoplasia of the cerebellar vermis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Ataxia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Cerebellar vermis hypoplasia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Cirrhosis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Coloboma | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Dystonia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Elevated circulating hepatic transaminase concentration | Lab / Clinical | Lab value | — | — | Moderate | HPO, Monarch | HPO |
| Encephalocele | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Esophageal varix | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Generalized hypotonia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Global developmental delay | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Growth delay | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hepatic fibrosis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hepatomegaly | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hyperreflexia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hypertelorism | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hypertension | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Hypotonia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Intrahepatic bile duct dilatation | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Moderate intellectual disability | Functional | Functional test | — | — | Moderate | HPO, Monarch | HPO |
| Molar tooth sign on MRI | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Multiple small medullary renal cysts | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Nephronophthisis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Nystagmus | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Occipital encephalocele | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Oculomotor apraxia | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Optic disc pallor | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Portal hypertension | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Postaxial hand polydactyly | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Ptosis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Renal cyst | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Round face | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Seizure | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Spasticity | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Splenomegaly | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Stage 5 chronic kidney disease | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Unilateral renal agenesis | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Vascular dilatation | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Wide mouth | Pathology | Pathological finding | — | — | Moderate | HPO, Monarch | HPO |
| Duration of Response | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Effectiveness of caregiver massage to reduce child and caregiver distress and promote child health-related quality of life | Scales & PROs | Clinical scale | — | — | Emerging | ClinicalTrials.gov | — |
| Incidence of Graft Rejection | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Incidence of Non-relapse Mortality | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Overall survival | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Probability of severe (grade III/IV) GVHD in each arm | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
| Quality of life | Scales & PROs | Clinical scale | — | — | Emerging | ClinicalTrials.gov | — |
| The Proportion of Participants Who Experienced a Systemic Allergic Reaction (CoFAR Grade 2+ Regardless of Tryptase or CoFAR Grade 1 With Elevated Tryptase) Within 90 Minutes Post-vaccination to the First Dose, Adjusting for Placebo. | Lab / Clinical | Lab value | — | — | Emerging | ClinicalTrials.gov | — |
Therapeutics
Direct disease associations, biomarker-linked drugs, OSMF narrative-review natural agents, and merged ranking. Only agents with registry trials or published clinical literature are shown by default.
No therapeutics in this section.
No therapeutics in this section.
No therapeutics in this section.
Alterations and therapeutics are aggregated from public databases (Open Targets, HPO, ChEMBL, DGIdb, and others). Natural agents are candidates from OSMF narrative reviews on opensourcemed.info/chronic-disease.html — not approved treatments. This page is for research orientation only — not medical advice.