Rare Disease Library

Maternal disease-related embryofetopathy

Maternal hyperthermia-induced birth defects

Maternal phenylketonuria syndrome

Hyperphenylalaninemic embryopathy · Maternal hyperphenylalaninemia

Maternal riboflavin deficiency

Maternal uniparental disomy of chromosome 1 syndrome

UPD(1)mat

Maternal uniparental disomy of chromosome 13 syndrome

UPD(13)mat

Maternal uniparental disomy of chromosome 16 syndrome

UPD(16)mat

Maternal uniparental disomy of chromosome 2 syndrome

UPD(2)mat

Maternal uniparental disomy of chromosome 20 syndrome

UPD(20)mat · Maternal UPD(20)

Maternal uniparental disomy of chromosome 21 syndrome

UPD(21)mat

Maternal uniparental disomy of chromosome 22 syndrome

UPD(22)mat

Maternal uniparental disomy of chromosome 4 syndrome

UPD(4)mat

Maternal uniparental disomy of chromosome 6 syndrome

UPD(6)mat

Maternal uniparental disomy of chromosome 9 syndrome

UPD(9)mat

Maternal uniparental disomy of chromosome X syndrome

UPD(X)mat

Maternal uniparental disomy syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Multifocal atrial tachycardia

Chaotic atrial tachycardia · MAT

Cleft palate-short stature-vertebral anomalies syndrome

Mathieu-De Broca-Bony syndrome

Hemolytic disease of the newborn with Kell alloimmunization

Anti-K HDN · Maternal anti-Kell alloimmunization

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion

Maternal del(14)(q32.2) · Maternal monosomy 14q32.2

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

Mitochondrial DNA-related cardiomyopathy and hearing loss

mtDNA-related cardiomyopathy and deafness · Maternally-inherited cardiomyopathy and deafness

Mitochondrial DNA-related dystonia

Maternally-inherited mitochondrial dystonia · mtDNA-related dystonia

Mitochondrial DNA-related mitochondrial myopathy

mtDNA-related mitochondrial myopathy · Maternally-inherited mitochondrial myopathy

Mitochondrial DNA-related progressive external ophthalmoplegia

Maternally-inherited CPEO · Maternally-inherited chronic progressive external ophthalmoplegia

MODY

Maturity-onset diabetes of the young

MT-ATP6-related mitochondrial spastic paraplegia

Maternally-inherited spastic paraplegia · Maternally-inherited SPG

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM

46,XX difference of sex development induced by endogenous maternal-derived androgen

46,XX DSD induced by endogenous maternal-derived androgen · 46,XX disorder of sex development induced by endogenous maternal-derived androgen

46,XX difference of sex development induced by exogenous maternal-derived androgen

46,XX DSD induced by exogenous maternal-derived androgen · 46,XX disorder of sex development induced by exogenous maternal-derived androgen

46,XX difference of sex development induced by maternal-derived androgen

46,XX disorder of sex development induced by maternal-derived androgen · 46,XX DSD induced by maternal-derived androgen

46,XY difference of sex development induced by maternal exposure to endocrine disruptors

46,XY DSD induced by maternal-exposure to endocrine disruptors · 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors

Achromatopsia

ACHM · Complete or incomplete color blindness

Acinar cystic transformation of the pancreas

Pancreatic acinar cystic transformation · Acinar cell cystadnoma

Acrodermatitis continua of Hallopeau

Acrodermatitis enteropathica

AEZ · Inherited zinc deficiency

Acroosteolysis-keloid-like lesions-premature aging syndrome

Premature aging syndrome, Penttinen type

Acute and subacute inflammatory demyelinating polyneuropathy

Acute and subacute inflammatory demyelinating polyradiculoneuropathy

Acute encephalopathy with inflammation-mediated status epilepticus

Acute generalized exanthematous pustulosis

AGEP · Pustular drug eruption

Acute inflammatory demyelinating polyradiculoneuropathy

AIDP · Acute idiopathic demyelinating polyneuropathy

Acute myeloblastic leukemia with maturation

AML M2 · Acute myeloblastic leukemia M2

Acute myeloblastic leukemia without maturation

AML M1 · Acute myeloblastic leukemia M1

Acute myeloid leukemia with CEBPA somatic mutations

Acute myeloid leukemia · AML

Acute myeloid leukemia with NPM1 somatic mutations

Acute myeloid leukemia · AML