- Z E syndrome - See Zollinger-Ellison syndrome
- Zadik Barak Levin syndrome
- ZAP-70 deficiency
- Zaspopathy (type) - See Myofibrillar myopathy
- ZASP-related myofibrillar myopathy - See Late-onset distal myopathy, Markesbery-Griggs type
- Zazam Sheriff Phillips syndrome
- Zebra-like hyperpigmentation - See Linear and whorled nevoid hypermelanosis
- Zechi Ceide syndrome
- Zellweger leukodystrophy - See Zellweger syndrome
- Zellweger spectrum - See Peroxisome biogenesis disorder-Zellweger syndrome spectrum
- Zellweger spectrum disorders - See Peroxisome biogenesis disorder-Zellweger syndrome spectrum
- Zellweger syndrome
- Zellweger syndrome spectrum - See Peroxisome biogenesis disorder-Zellweger syndrome spectrum
- Zellweger-like contiguous gene deletion syndrome - See Deafness, dystonia, and cerebral hypomyelination
- Zerres Rietschel Majewski syndrome
- ZES - See Zollinger-Ellison syndrome
- Zeta-associated-protein 70 deficiency - See ZAP-70 deficiency
- Zhu-Tokita-Takenouchi-Kim syndrome - See ZTTK syndrome
- Zika fever - See Zika virus infection
- Zika syndrome - See Congenital Zika syndrome
- Zika virus disease - See Zika virus infection
- Zika virus infection
- Zimmer phocomelia - See Tetraamelia multiple malformations X-linked
- Zimmer Taub Sova syndrome - See Tetraamelia multiple malformations X-linked
- Zimmerman Laband syndrome - See Laband syndrome
- Zinsser Cole Engman syndrome - See Dyskeratosis congenita X-linked
- Zinsser-Engman-Cole syndrome - See Dyskeratosis congenita
- Zlotogora syndrome
- Zlotogora-Ogur syndrome - See Zlotogora syndrome
- Zlotogora-Zilberman-Tenenbaum syndrome - See Zlotogora syndrome
- ZLS - See Laband syndrome
- Zollinger-Ellison syndrome
- Zori Stalker Williams syndrome
- Zosteriform hyperpigmentation - See Linear and whorled nevoid hypermelanosis
- Zosteriform lentiginous nevus - See Linear and whorled nevoid hypermelanosis
- ZS - See Zellweger syndrome
- ZTTK syndrome
- Zunich neuroectodermal syndrome
- Zuska disease - See Zuska's disease
- Zuska's disease
- ZWS - See Zellweger syndrome
- Zygodactyly - See Syndactyly type 1
- Zygomycosis
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