Malformative diseases (Graph)
Here is the list of all malformative diseases currently entered in the system:
- Achondroplasia
- Bardet-Biedl disease, BBS1-associated
- Blepharophimosis, ptosis, and epicanthus inversus disease
- CHARGE disease
- CMV-associated embryofoetopathy
- Congenital rubella syndrome (CRS)
- Cousin syndrome
- del(10)(p12p14) disease
- del(21q22) disease
- Fetal toxoplasmosis
- GLI2-associated holoprosencephaly (HPE9)
- Holoprosencephaly locus 1 (HPE1)
- Holoprosencephaly locus 6 (HPE6)
- Holoprosencephaly locus 8 (HPE8)
- Holoprosencephaly, PTCH1-associated (HPE7)
- Holoprosencephaly, ZIC2-associated (HPE5)
- Joubert syndrome locus 1 JBTS1
- Joubert syndrome locus 2 JBTS2
- Joubert syndrome locus 3 JBTS3
- Joubert syndrome locus 4 JBTS4
- Joubert syndrome locus 5 JBTS5
- Joubert syndrome locus 6 JBTS6
- Joubert syndrome locus 7 JBTS7
- Maternal cocaine abuse
- Maternal diabetes-associated embryopathy
- MKS1-associated Meckel syndrome
- MKS2-associated Meckel syndrome
- MKS3-associated Meckel syndrome
- MKS4-associated disease
- molar triploidy
- Monosomy X disease
- Neurofibromatosis type 1
- NPHP3-associated disease
- Periventricular heterotopia, X-linked
- SHH-associated holoprosencephaly (HPE3)
- SIX3-associated holoprosencephaly (HPE2)
- Smith-Lemli-Opitz syndrome
- Sotos syndrome
- t(6;10)(q23;q26)-associated disease
- TGIF-associated holoprosencephaly (HPE4)
- Thanatophoric dysplasia
- Thanatophoric dysplasia
- Trisomy 13 mosaicism disease
- Trisomy 16 disease
- Trisomy 21 disease
- Trisomy 8 mosaicism disease
- WAGR syndrome