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病歷用詞 → 對應的 HPO，並附加具這些 HPO 的疾病作為參考。
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待審核對應 HPO 表現型(2)
- Enamel hypoplasiaHP:0006297權重 0.85已確認具此 HPO 的疾病（附加參考）：
- 17q11.2 microduplication syndrome (ORPHA:139474)
- 48,XYYY syndrome (ORPHA:99329)
- Amelogenesis imperfecta (ORPHA:88661)
- Autoimmune polyendocrinopathy type 1 (ORPHA:3453)
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form (ORPHA:79396)
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form (ORPHA:79408)
- Cockayne syndrome (ORPHA:191)
- Cockayne syndrome type 1 (ORPHA:90321)
- Cockayne syndrome type 2 (ORPHA:90322)
- Cockayne syndrome type 3 (ORPHA:90324)
- Crigler-Najjar syndrome (ORPHA:205)
- Focal dermal hypoplasia (ORPHA:2092)
- Hypocalcemic vitamin D-dependent rickets (ORPHA:289157)
- Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome (ORPHA:363523)
- Intermediate generalized junctional epidermolysis bullosa (ORPHA:79402)
- Junctional epidermolysis bullosa inversa (ORPHA:79405)
- Junctional epidermolysis bullosa with pyloric atresia (ORPHA:79403)
- Lacrimoauriculodentodigital syndrome (ORPHA:2363)
- Laryngo-onycho-cutaneous syndrome (ORPHA:2407)
- Late-onset junctional epidermolysis bullosa (ORPHA:79406)
- Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
- Localized junctional epidermolysis bullosa (ORPHA:251393)
- Microcephalic primordial dwarfism, Toriello type (ORPHA:2643)
- Mosaic trisomy 7 syndrome (ORPHA:1747)
- Naegeli-Franceschetti-Jadassohn syndrome (ORPHA:69087)
- Nail-patella syndrome (ORPHA:2614)
- Oculoskeletodental syndrome (ORPHA:557003)
- Oligodontia (ORPHA:99798)
- Orofaciodigital syndrome type 5 (ORPHA:2919)
- Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
- Pfeiffer-Palm-Teller syndrome (ORPHA:2871)
- Prader-Willi syndrome (ORPHA:739)
- Pseudohypoparathyroidism type 1A (ORPHA:79443)
- Pseudohypoparathyroidism type 1B (ORPHA:94089)
- Pseudohypoparathyroidism type 1C (ORPHA:79444)
- Pycnodysostosis (ORPHA:763)
- Recessive dystrophic epidermolysis bullosa inversa (ORPHA:79409)
- Regional odontodysplasia (ORPHA:83450)
- SCARF syndrome (ORPHA:3134)
- Self-improving dystrophic epidermolysis bullosa (ORPHA:79411)
- Severe generalized junctional epidermolysis bullosa (ORPHA:79404)
- Sjögren-Larsson syndrome (ORPHA:816)
- Spondylocarpotarsal synostosis (ORPHA:3275)
- Steroid dehydrogenase deficiency-dental anomalies syndrome (ORPHA:3196)
- Trichothiodystrophy (ORPHA:33364)
- Abnormal dentin morphologyHP:0010299權重 0.6已確認