Rare Disease Library

Non-syndromic rectourethral fistula, bulbar type

Non-syndromic ARM with rectourethral fistula, bulbar type · Non-syndromic anorectal malformation with rectobulbar fistula

Non-syndromic rectourethral fistula, prostatic type

Non-syndromic ARM with rectourethral fistula, prostatic type · Non-syndromic anorectal malformation with rectoprostatic fistula

Non-syndromic rectovaginal fistula

Non-syndromic ARM with rectovaginal fistula · Non-syndromic anorectal malformation with rectovaginal fistula

Non-syndromic rectovesical fistula

Non-syndromic ARM with rectovesical fistula · Non-syndromic anorectal malformation with bladder neck fistula

Non-syndromic renal or urinary tract malformation

Non-syndromic respiratory or mediastinal malformation

Non-syndromic sagittal craniosynostosis

Isolated scaphocephaly · Isolated sagittal craniosynostosis

Non-syndromic syndactyly

Non-syndromic terminal transverse limb defect

Non-syndromic unicoronal and sagittal craniosynostosis

Isolated unicoronal and sagittal craniosynostosis · Non-syndromic unilateral coronal and sagittal suture synostosis

Non-syndromic unicoronal craniosynostosis

Isolated unicoronal craniosynostosis · Non-syndromic unilateral coronal synostosis

Non-syndromic unifrontosphenoidal craniosynostosis

Isolated unifrontosphenoidal craniosynostosis · Non-syndromic unilateral frontosphenoidal suture synostosis

Non-syndromic unilambdoid craniosynostosis

Isolated unilamboid craniosynostosis · Non-syndromic unilateral lambdoid synostosis

Non-syndromic unisquamosal craniosynostosis

Isolated unisquamosal craniosynostosis · Non-syndromic unilateral squamosal suture synostosis

Non-syndromic unisutural craniosynostosis

Isolated unisutural craniosynostosis · Non-syndromic single suture synostosis

Non-syndromic urogenital tract malformation

Non-syndromic urogenital tract malformation of female

Non-syndromic urogenital tract malformation of male

Non-syndromic urogenital tract malformation of male and female

Non-syndromic uterovaginal malformation

Non-syndromic vestibular fistula

Non-syndromic ARM with vestibular fistula · Non-syndromic anorectal malformation with vestibular fistula

Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen

Non-terminal myelocystocele

Non-transplant-related bronchiolitis obliterans

Noonan syndrome

Noonan syndrome and Noonan-related syndrome

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Noonan syndrome-like disorder with loose anagen hair

NS/LAH · Mazzanti syndrome

Normokalemic periodic paralysis

NormoKPP · NormoPP

Normosmic congenital hypogonadotropic hypogonadism

Normosmic idiopathic hypogonadotropic hypogonadism · nIHH

North Carolina macular dystrophy

CAPE dystrophy · CAPED

Northern epilepsy

Progressive epilepsy-intellectual disability syndrome, Finnish type · CLN8 disease, Northern epilepsy variant

Nose and cavum anomaly

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance

NTHL1-related polyposis

NTHL1-related adenomatous polyposis

Null pituitary adenoma

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

NUT midline carcinoma

NMC

Obesity due to CEP19 deficiency

Obesity due to congenital leptin deficiency

Obesity due to congenital leptin resistance

Obesity due to leptin receptor gene deficiency

Obesity due to melanocortin 4 receptor deficiency

MC4R deficiency

Obesity due to pro-opiomelanocortin deficiency

POMC deficiency

Obesity due to prohormone convertase I deficiency

PCI deficiency

Obesity due to SIM1 deficiency