| DOID:0070623 |
B-lymphoblastic leukemia with MEF2D rearrangement |
| DOID:0070624 |
B-lymphoblastic leukemia with MYC rearrangement |
| DOID:0070625 |
B-lymphoblastic leukemia with NUTM1 rearrangement |
| DOID:0070626 |
B-lymphoblastic leukemia with PAX5alt |
| DOID:0070627 |
B-lymphoblastic leukemia with TCF3-HLF fusion |
| DOID:0070628 |
B-lymphoblastic leukemia with ZNF384 rearrangement |
| DOID:0051010 |
Bryant-Li-Bhoj neurodevelopmental syndrome |
| DOID:0051011 |
Bryant-Li-Bhoj neurodevelopmental syndrome 1 |
| DOID:0051012 |
Bryant-Li-Bhoj neurodevelopmental syndrome 2 |
| DOID:0050457 |
Sertoli cell-only syndrome |
| DOID:0070629 |
acute myeloid leukemia with CBFA2T3-GLIS2 fusion |
| DOID:0070631 |
acute myeloid leukemia with FUS-ERG fusion |
| DOID:0070630 |
acute myeloid leukemia with KAT6A-CREBBP fusion |
| DOID:0070632 |
acute myeloid leukemia with MNX1-ETV6 fusion |
| DOID:0070633 |
acute myeloid leukemia with NPM1-MLF1 fusion |
| DOID:0061006 |
advanced sleep phase syndrome 4 |
| DOID:2934 |
aleutian mink disease |
| DOID:0070615 |
autoinflammation, antibody deficiency, and immune dysregulation syndrome |
| DOID:0051000 |
autoinflammatory disease |
| DOID:0060995 |
autosomal dominant isolated macrothrombocytopenia 2 |
| DOID:0070601 |
autosomal dominant nonsyndromic deafness 37 |
| DOID:0070602 |
autosomal dominant nonsyndromic deafness 80 |
| DOID:0070608 |
autosomal dominant nonsyndromic deafness 81 |
| DOID:0070603 |
autosomal dominant nonsyndromic deafness 82 |
| DOID:0070609 |
autosomal dominant nonsyndromic deafness 83 |
| DOID:0070604 |
autosomal dominant nonsyndromic deafness 84 |
| DOID:0070605 |
autosomal dominant nonsyndromic deafness 85 |
| DOID:0070610 |
autosomal dominant nonsyndromic deafness 86 |
| DOID:0070606 |
autosomal dominant nonsyndromic deafness 87 |
| DOID:0070611 |
autosomal dominant nonsyndromic deafness 88 |
| DOID:0070612 |
autosomal dominant nonsyndromic deafness 89 |
| DOID:0070607 |
autosomal dominant nonsyndromic deafness 90 |
| DOID:0060854 |
autosomal recessive pseudohypoaldosteronism type 1 |
| DOID:0060992 |
bent bone dysplasia syndrome 1 |
| DOID:0060993 |
bent bone dysplasia syndrome 2 |
| DOID:5154 |
borna disease |
| DOID:0060160 |
childhood spinal muscular atrophy |
| DOID:0111368 |
cholesterol-ester transfer protein deficiency |
| DOID:0070614 |
chromosome 11 partial duplication syndrome |
| DOID:2536 |
chronic inflammatory demyelinating polyneuritis |
| DOID:0061016 |
combined or isolated pituitary growth hormone deficiency 7 |
| DOID:0061019 |
combined or isolated pituitary hormone deficiency 1 |
| DOID:0061018 |
combined or isolated pituitary hormone deficiency 8 |
| DOID:0061020 |
combined pituitary hormone deficiency 2 |
| DOID:0061021 |
combined pituitary hormone deficiency 3 |
| DOID:0061017 |
combined pituitary hormone deficiency 4 |
| DOID:0061022 |
combined pituitary hormone deficiency 6 |
| DOID:0061005 |
congenital amegakaryocytic thrombocytopenia 1 |
| DOID:0061002 |
congenital amegakaryocytic thrombocytopenia 2 |
| DOID:0060991 |
congenital disorder of deglycosylation |
| DOID:0060990 |
congenital disorder of deglycosylation 2 |
| DOID:0051001 |
congenital dyserythropoietic anemia type IIIb |
| DOID:0051002 |
congenital dyserythropoietic anemia type IVb |
| DOID:4668 |
congenital kyphosis |
| DOID:0051003 |
congenital nonspherocytic hemolytic anemia 1 |
| DOID:0051009 |
congenital nonspherocytic hemolytic anemia 10 |
| DOID:0051004 |
congenital nonspherocytic hemolytic anemia 3 |
| DOID:0051005 |
congenital nonspherocytic hemolytic anemia 4 |
| DOID:0051006 |
congenital nonspherocytic hemolytic anemia 5 |
| DOID:0051007 |
congenital nonspherocytic hemolytic anemia 8 |
| DOID:0051008 |
congenital nonspherocytic hemolytic anemia 9 |
| DOID:0061010 |
craniosynostosis 1 |
| DOID:0061009 |
craniosynostosis 2 |
| DOID:0061011 |
craniosynostosis 3 |
| DOID:0061012 |
craniosynostosis 4 |
| DOID:0061008 |
craniosynostosis 6 |
| DOID:0070564 |
dialysis disequilibrium syndrome |
| DOID:0060984 |
digenic dyskeratosis congenita |
| DOID:0060994 |
encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
| DOID:0070613 |
familial renal glucosuria |
| DOID:0061015 |
female-restricted Wieacker-Wolff syndrome |
| DOID:0070616 |
glycine encephalopathy 1 |
| DOID:0061001 |
glycine encephalopathy 2 |
| DOID:0050156 |
idiopathic pulmonary fibrosis |
| DOID:0070600 |
intellectual disability and myopathy syndrome |
| DOID:0060333 |
mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |
| DOID:0070619 |
mitochondrial trifunctional protein deficiency 1 |
| DOID:0060999 |
mitochondrial trifunctional protein deficiency 2 |
| DOID:0061023 |
nonphotosensitive trichothiodystrophy 8 |
| DOID:0061024 |
nonphotosensitive trichothiodystrophy 9 |
| DOID:0061014 |
ovarian dysgenesis 10 |
| DOID:0061013 |
ovarian dysgenesis 9 |
| DOID:0061003 |
pancreatic agenesis 1 |
| DOID:0060988 |
pancreatic agenesis 2 |
| DOID:146 |
papilledema |
| DOID:0061004 |
poor metabolism of thiopurines 1 |
| DOID:0060996 |
poor metabolism of thiopurines 2 |
| DOID:9373 |
postural kyphosis |
| DOID:0060987 |
preaxial polydactyly I |
| DOID:0060986 |
preaxial polydactyly II |
| DOID:0060985 |
preaxial polydactyly type IV |
| DOID:0051013 |
pseudohypoparathyroidism type 1C |
| DOID:0070617 |
rhabdoid tumor predisposition syndrome |
| DOID:0070618 |
rhabdoid tumor predisposition syndrome 1 |
| DOID:0060997 |
rhabdoid tumor predisposition syndrome 2 |
| DOID:0070621 |
ring chromosome 14 syndrome |
| DOID:0070622 |
ring chromosome 20 syndrome |
| DOID:0070620 |
ring chromosome syndrome |
| DOID:0060989 |
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 |
| DOID:0061007 |
sideroblastic anemia 5 |
| DOID:0060998 |
striatal degeneration 2 |