Conditions

spastic ataxia 2

MONDO_0012651 Condition
SPAX2
05/31/2017

COG8-CDG

MONDO_0012635 Condition
Carbohydrate deficient glycoprotein syndrome type IIh
06/01/2017

osteogenesis imperfecta type 7

MONDO_0012536 Condition
OI7
06/01/2017

holoprosencephaly 9

MONDO_0012563 Condition
pituitary anomalies with holoprosencephaly-like features
05/31/2017

autosomal recessive nonsyndromic deafness 63

MONDO_0012670 Condition
Deafness, Autosomal Recessive type 63
02/15/2017

osteogenesis imperfecta type 8

MONDO_0012581 Condition
OI8
05/31/2017

combined oxidative phosphorylation defect type 4

MONDO_0012534 Condition
Combined Oxidative Phosphorylation Deficiency type 4
06/01/2017

xeroderma pigmentosum group B

MONDO_0012531 Condition
Xeroderma Pigmentosum, Complementation Group type B
11/02/2018

acyl-CoA dehydrogenase 9 deficiency

MONDO_0012624 Condition
ACAD9 deficiency
03/27/2018

isobutyryl-CoA dehydrogenase deficiency

MONDO_0012648 Condition
Isobutyric aciduria
05/31/2017

Usher syndrome type 2D

MONDO_0012662 Condition
USH2D
05/10/2017

Diamond-Blackfan anemia 3

MONDO_0012529 Condition
Diamond-Blackfan Anemia type 3
05/31/2017

Noonan syndrome 4

MONDO_0012547 Condition
NS4
06/20/2017

lethal congenital contracture syndrome 3

MONDO_0012656 Condition
Lethal Congenital Contracture Syndrome type 3
05/31/2017

Legius syndrome

MONDO_0012669 Condition
Neurofibromatosis 1-like syndrome
05/31/2017

Noonan syndrome 5

MONDO_0012690 Condition
Noonan syndrome type 5
06/20/2017

Pitt-Hopkins syndrome

MONDO_0012589 Condition
05/02/2018

nemaline myopathy 7

MONDO_0012538 Condition
Nemaline Myopathy type 7
05/31/2017

cerebrooculofacioskeletal syndrome 4

MONDO_0012554 Condition
Cerebrooculofacioskeletal Syndrome type 4
06/01/2017

06/01/2017