Leber congenital amaurosis, LCA, amaurosis congenita of Leber, Leber's congenital amaurosis, Leber's disease, Leber's amaurosis

pharyngeal pouch syndrome, Di-George syndrome, DGS, DiGeorge anomaly, DiGeorge's syndrome, 22q11.2 Deletion syndrome, 22q deletion syndrome(s), DiGeorge syndrome, DGS1, DiGeorge syndrome type 1

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

glandula adrenalis, glandula suprarenalis

leukemia, myelocytic, acute, acute myeloblastic leukemia, AML - acute myeloid leukaemia, acute myeloid leukemia (AML), leukemia, acute myeloid, reduced survival in, somatic, hematopoeitic - acute Myleogenous leukaemia (AML), acute myelocytic leukemia, acute granulocytic leukemia, acute myeloid leukemia, leukemia, acute myeloid, somatic, hematopoeitic - acute Myleogenous leukemia (AML), acute myelogenous leukemias, ANLL, acute myelocytic leukaemia, AML, acute granulocytic leukaemia, acute Nonlymphocytic leukemia, acute myelogenous leukemia, leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation, acute nonlymphocytic leukemia, myeloid leukemia, acute, acute nonlymphocytic leukaemia, acute Nonlymphocytic leukaemia, acute myeloblastic leukaemia, acute myeloid leukaemia (AML), myeloid leukemia, acute, M4/M4Eo subtype, somatic, leukemia, acute myeloid, autosomal dominant, somatic mutation, AML - acute myeloid leukemia, acute myeloid leukemia, somatic, acute myelogenous leukaemia

gastrocnemius muscle, m.gastrocnemius, m. gastrocnemius

muscle-eye-brain-GMPPB related

NGPS, Nestor-Guillermo progeria syndrome, BANF1-related neurodevelopmental syndrome

CLN11, ceroid lipofuscinosis, neuronal, type 11, neuronal ceroid lipofuscinosis caused by mutation in Grn, neuronal ceroid lipofuscinosis type 11, neuronal ceroid lipofuscinosis caused by mutation in GRN, GRN neuronal ceroid lipofuscinosis, Grn neuronal ceroid lipofuscinosis

ONT GridION Mk1, GridION Sequencing Device Mk1, GridION Mk1, Oxford Nanopore Technologies GridION Mk1

hyperparathyroidism type 1, hyperparathyroidism 1, hyperparathyroidism, familial primary

retinitis pigmentosa 11, RP11, retinitis pigmentosa caused by mutation in PRPF31, retinitis pigmentosa type 11, PRPF31 retinitis pigmentosa

MRXS18, syndromic X-linked intellectual disability 18, ARTS, syndromic X-linked intellectual disability Arts type, Arts syndrome, Arts, lethal ataxia with deafness and optic atrophy, MRXSARTS, syndromic X-linked mental retardation Arts type, syndromic X-linked mental retardation 18, Arts syndrome, X-linked recessive, fatal X-linked ataxia with deafness and loss of vision

POF17, premature ovarian failure 17

CMD, MDC

PCD, Kartagener syndrome, immotile ciliary syndrome, ciliary motility disorder, Kartagener's syndrome

organic acid metabolic process disease, organic acid metabolism disorder, disorder of organic acid metabolism, disorder of organic acid metabolic process

JURKAT cell, FHCRC-11, JM cell, FCCH1024, JM

CDG-Im, congenital disorder of glycosylation type 1m, DK1-CDG, hypotonia and ichthyosis due to dolichol phosphate deficiency, congenital disorder of glycosylation type Im, DK1-congenital disorder of glycosylation, CDG1M, carbohydrate deficient glycoprotein syndrome type Im, dolichol kinase deficiency, CDG syndrome type Im

STARR-seq assay, self-transcribing active regulatory region sequencing, STARR-seq