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Disease	Synonyms	Description	Articles	Phenotypes
focal nonepidermolytic palmoplantar keratoderma	isolated focal non-epidermolytic palmoplantar kera.. [+] isolated focal non-epidermolytic palmoplantar keratoderma; FNEPPK [-]	A nonepidermolytic palmoplantar keratoderma charac..[+] A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. [-]
partial cryptophthalmia	incomplete cryptophthalmos	An isolated cryptophthalmia characterized by an il..[+] An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea. [-]
X-linked spinal muscular atrophy 2	infantile-onset X-linked spinal muscular atrophy; .. [+] infantile-onset X-linked spinal muscular atrophy; X-linked distal arthrogryposis multiplex congenita; X-linked spinal muscular atrophy type 2; SMAX2; spinal muscular atrophy with arthrogryposis [-]	A spinal muscular atrophy characterized by neonata..[+] A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. [-]
Tonne-Kalscheuer syndrome	intellectual developmental disorder with or withou.. [+] intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia; MRX61; TOKAS; X-linked mental retardation 61 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. [-]
X-Linked immunodeficiency 74	IMD74; respiratory insufficiency due to SARS-CoV-2.. [+] IMD74; respiratory insufficiency due to SARS-CoV-2 viral infection; TLR7 deficiency; X-linked immunodeficiency 74,COVID-19-related [-]	A T cell deficiency characterized by severe respir..[+] A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. [-]
SHOX-related short stature	idiopathic familial short stature	A bone development disease characterized by height..[+] A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. [-]
severe congenital neutropenia 3	infantile agranulocytosis; Kostmann disease; Kostm.. [+] infantile agranulocytosis; Kostmann disease; Kostmann syndrome; SCN3 [-]	A severe congenital neutropenia characterized by b..[+] A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. [-]
thyroid dyshormonogenesis 1	iodide accumulation, transport, or trapping defect.. [+] iodide accumulation, transport, or trapping defect; genetic defect in thyroid hormonogenesis 1; TDH1 [-]	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. [-]
thyroid dyshormonogenesis 2A	iodide peroxidase deficiency; TDH2A; thyroid perox.. [+] iodide peroxidase deficiency; TDH2A; thyroid peroxidase deficiency; genetic defect in thyroid hormonogenesis 2A [-]	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. [-]
thyroid dyshormonogenesis 4	iodotyrosine dehalogenase deficiency; deiodinase d.. [+] iodotyrosine dehalogenase deficiency; deiodinase deficiency; genetic defect in thyroid hormonogenesis 4; TDH4 [-]	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. [-]
developmental and epileptic encephalopathy 93	infantile or early childhood epileptic encephalopa.. [+] infantile or early childhood epileptic encephalopathy 3; IECEE3; DEE93 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. [-]

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