UDNI tip2toe Questionnaire

UDNI tip2toe Questionnaire Help

Connecting to API..

1. Overview 2. Individual 3. Photographs 4. Pedigree 5. Family history 6. Growth Chart 7. Radiology - imaging 8. Previous genetic investigations 9. Other Laboratory results 10. Parents summary 11. Clinical findings 12. Pregnancy 13. Delivery 14. Neonatal period complications 15. Growth at birth 16. Post-natal growth 17. Facial morphology 18. Eyes 19. Mouth/teeth 20. Nose 21. Ears 22. Central nervous system 23. Cognition 24. Behavioral abnormality 25. Speech 26. Seizures 27. Muscles 28. Skeleton 29. Head and neck 30. Trunk 31. Upper limbs 32. Hands, fingers, and thumbs 33. Lower limbs 34. Feet/toes 35. Airways 36. Heart/great vessels 37. Kidneys and urinary tract 38. Genitalia 39. Liver and spleen 40. Skin 41. Hair/nails 42. Endocrine/metabolic 43. Connective tissue 44. Immune system/blood 45. Gastrointestinal 46. Cancer/malignancy /benign tumor 47. Summary

Endocrine/metabolic

Diabetes mellitus

HP:0000819

Yes No Not investigated

Recurrent hypoglycemia

HP:0001988

Yes No Not investigated

Congenital lactic acidosis

HP:0004902

Yes No Not investigated

Hypothyroidism

HP:0000821

Yes No Not investigated

Abnormality of the parathyroid gland

HP:0000828

Yes No Not investigated

Abnormality of endocrine pancreas physiology

HP:0012093

Yes No Not investigated

Abnormality of the hypothalamus-pituitary axis

HP:0000864

Yes No Not investigated

Abnormality of the adrenal glands

HP:0000834

Yes No Not investigated

Precocious puberty

HP:0000826

Yes No Not investigated

Delayed puberty

HP:0000823

Yes No Not investigated

Hyperthyroidism

HP:0000836

Yes No Not investigated

Other. Describe in Clinical summary and/or add HPO terms here

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