| DOID:0051011 |
Bryant-Li-Bhoj neurodevelopmental syndrome 1 |
| DOID:0051012 |
Bryant-Li-Bhoj neurodevelopmental syndrome 2 |
| DOID:0061156 |
CASGID syndrome |
| DOID:0070653 |
Fliedner-Zweier syndrome |
| DOID:0061158 |
Kariminejad neurodevelopmental syndrome |
| DOID:0061154 |
Mulvihill-Smith syndrome |
| DOID:0061146 |
Pan-Chung-Bellen syndrome |
| DOID:0070650 |
Ramon syndrome |
| DOID:0050457 |
Sertoli cell-only syndrome |
| DOID:2934 |
aleutian mink disease |
| DOID:0051014 |
atypical autosomal dominant adult-onset demyelinating leukodystrophy |
| DOID:0061170 |
autoinflammation, panniculitis, and dermatosis syndrome |
| DOID:0061169 |
autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome |
| DOID:0051037 |
autosomal dominant primary microcephaly 26 |
| DOID:0051038 |
autosomal dominant primary microcephaly 27 |
| DOID:0061166 |
autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss |
| DOID:0061167 |
autosomal recessive proximal renal tubular acidosis |
| DOID:0060854 |
autosomal recessive pseudohypoaldosteronism type 1 |
| DOID:5154 |
borna disease |
| DOID:0070635 |
cardiovascular-kidney-metabolic syndrome |
| DOID:0070648 |
cherubism |
| DOID:0070649 |
cherubism 2 |
| DOID:0060160 |
childhood spinal muscular atrophy |
| DOID:0111368 |
cholesterol-ester transfer protein deficiency |
| DOID:2536 |
chronic inflammatory demyelinating polyneuritis |
| DOID:0051054 |
coarctation of the aorta |
| DOID:0061143 |
complex cortical dysplasia with other brain malformations 10 |
| DOID:0061142 |
complex cortical dysplasia with other brain malformations 11 |
| DOID:0061141 |
complex cortical dysplasia with other brain malformations 12 |
| DOID:0061144 |
complex cortical dysplasia with other brain malformations 13 |
| DOID:0061138 |
complex cortical dysplasia with other brain malformations 9 |
| DOID:0060990 |
congenital disorder of deglycosylation 2 |
| DOID:4668 |
congenital kyphosis |
| DOID:0061139 |
coronary atherosclerosis |
| DOID:0070564 |
dialysis disequilibrium syndrome |
| DOID:0061150 |
familial isolated hypoparathyroidism 1 |
| DOID:0061151 |
familial isolated hypoparathyroidism 2 |
| DOID:0061149 |
hereditary congenital ptosis 1 |
| DOID:0061148 |
hereditary congenital ptosis 2 |
| DOID:0070640 |
hereditary spastic paraplegia 18A |
| DOID:0070641 |
hereditary spastic paraplegia 18B |
| DOID:0070647 |
hereditary spastic paraplegia 30A |
| DOID:0070646 |
hereditary spastic paraplegia 30B |
| DOID:0070642 |
hereditary spastic paraplegia 72B |
| DOID:0070643 |
hereditary spastic paraplegia 91 |
| DOID:0070644 |
hereditary spastic paraplegia 92 |
| DOID:0070645 |
hereditary spastic paraplegia 93 |
| DOID:0050156 |
idiopathic pulmonary fibrosis |
| DOID:0061171 |
immunodeficiency 130 with HPV-related verrucosis |
| DOID:0061136 |
infantile hypercalcemia 1 |
| DOID:0061135 |
infantile hypercalcemia 2 |
| DOID:0061159 |
infantile onset multisystem autoimmune disease |
| DOID:0061160 |
infantile onset multisystem autoimmune disease 1 |
| DOID:0061161 |
infantile onset multisystem autoimmune disease 2 |
| DOID:0061162 |
infantile onset multisystem autoimmune disease 3 |
| DOID:0061163 |
infantile onset multisystem autoimmune disease 4 |
| DOID:0061164 |
infantile onset multisystem autoimmune disease 5 |
| DOID:0061155 |
kyphomelic dysplasia |
| DOID:0070636 |
mirror movements 1 |
| DOID:0070637 |
mirror movements 2 |
| DOID:0070639 |
mirror movements 3 |
| DOID:0070638 |
mirror movements 4 |
| DOID:0061168 |
mitochondrial axonal Charcot-Marie-Tooth disease |
| DOID:0060333 |
mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |
| DOID:0061145 |
monilethrix 1 |
| DOID:0061152 |
monilethrix 2 |
| DOID:0061153 |
monilethrix 3 |
| DOID:0061147 |
neurodevelopmental disorder with or without autism or seizures |
| DOID:0070651 |
neurodevelopmental disorder with seizures and gingival overgrowth |
| DOID:146 |
papilledema |
| DOID:0060996 |
poor metabolism of thiopurines 2 |
| DOID:9373 |
postural kyphosis |
| DOID:0061165 |
proximal renal tubular acidosis |
| DOID:0061140 |
ragopathy |
| DOID:0061127 |
retinitis pigmentosa 99 |
| DOID:0061157 |
retinopathy sensory neuropathy 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:0061137 |
spinocerebellar ataxia type 27B |
| DOID:0061173 |
transient neonatal diabetes mellitus 1 |
| DOID:0061172 |
transient neonatal diabetes mellitus 3 |