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

Skin

Abnormality of the skin

HP:0000951

Yes No Not investigated

Abnormality of skin pigmentation

HP:0001000

Yes No Not investigated

Multiple cafe-au-lait spots

HP:0007565

Yes No Not investigated

Freckling (axillary or inguinal)

HP:0001480

Yes No Not investigated

Penile freckling

HP:0031447

Yes No Not investigated

Abnormal blistering of the skin

HP:0008066

Yes No Not investigated

Vascular skin abnormality

HP:0011276

Yes No Not investigated

Supernumerary nipple

HP:0002558

Yes No Not investigated

Neoplasm of the skin

HP:0008069

Yes No Not investigated

Dry skin

HP:0000958

Yes No Not investigated

Eczema

HP:0000964

Yes No Not investigated

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

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