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Gene: Chd1 MGI:88393

Gene Summary

Name:

chromodomain helicase DNA binding protein 1

Synonyms:

4930525N21Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased mean corpuscular hemoglobin concentration	Chd1^{tm1b(KOMP)Wtsi}	HET	Early adult	2.57×10^-06
anophthalmia	Chd1^{tm1b(KOMP)Wtsi}	HET	Early adult	0.00
embryonic lethality prior to organogenesis	Chd1^{tm1b(KOMP)Wtsi}	HOM	E9.5	0.00
abnormal maxilla morphology	Chd1^{tm1b(KOMP)Wtsi}	HET	Early adult	1.58×10^-05
preweaning lethality, complete penetrance	Chd1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal eye morphology	Chd1^{tm1b(KOMP)Wtsi}	HET	E12.5	0.00
increased grip strength	Chd1^{tm1b(KOMP)Wtsi}	HET	Early adult	2.72×10^-06
decreased red blood cell distribution width	Chd1^{tm1b(KOMP)Wtsi}	HET	Early adult	1.07×10^-05
embryonic lethality prior to tooth bud stage	Chd1^{tm1b(KOMP)Wtsi}	HOM	E12.5	0.00
abnormal tooth morphology	Chd1^{tm1b(KOMP)Wtsi}	HET	Early adult	1.58×10^-05
abnormal embryo size	Chd1^{tm1b(KOMP)Wtsi}	HET	E9.5	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	16.67% (2 of 12)
Central nervous system ganglion	N/A	heterozygote	100% (2 of 2)
Ear	N/A	heterozygote	16.67% (2 of 12)
Embryo	N/A	heterozygote	91.67% (11 of 12)
Eye	N/A	heterozygote	0.0% (0 of 12)
Footplate	N/A	heterozygote	0.0% (0 of 12)
Forebrain	N/A	heterozygote	16.67% (2 of 12)
Forelimb	N/A	heterozygote	16.67% (2 of 12)
Gut	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 12)
Head	N/A	heterozygote	16.67% (2 of 12)
Heart	N/A	heterozygote	16.67% (2 of 12)
Hindbrain	N/A	heterozygote	16.67% (2 of 12)
Hindlimb	N/A	heterozygote	16.67% (2 of 12)
Liver	N/A	heterozygote	16.67% (2 of 12)
Lung	N/A	heterozygote	16.67% (2 of 12)
Mandibular process	N/A	heterozygote	16.67% (2 of 12)
Maxillary process	N/A	heterozygote	16.67% (2 of 12)
Midbrain	N/A	heterozygote	16.67% (2 of 12)
Nose	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	16.67% (2 of 12)
Skeleton	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	16.67% (2 of 12)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	heterozygote	16.67% (2 of 12)
Tail	N/A	heterozygote	16.67% (2 of 12)
Trachea	N/A	heterozygote	100% (2 of 2)
Urinary system	N/A	heterozygote	100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
axial skeleton	1.56% (1 of 64)
brain	1.18% (6 of 510)
central nervous system ganglion	1.37% (1 of 73)
ear	0.2% (1 of 510)
embryo	0.39% (2 of 511)
eye	0.2% (1 of 510)
footplate	0.2% (1 of 510)
forebrain	0.2% (1 of 510)
forelimb	0.2% (1 of 510)
gut	1.69% (1 of 59)
handplate	0.2% (1 of 510)
head	0.98% (5 of 510)
heart	0.2% (1 of 510)
hindbrain	1.18% (6 of 510)
hindlimb	0.2% (1 of 510)
liver	0.2% (1 of 505)
lung	0.2% (1 of 505)
mandibular process	0.2% (1 of 510)
maxillary process	0.2% (1 of 510)
midbrain	0.2% (1 of 510)
nose	1.28% (1 of 78)
oral cavity	0.2% (1 of 505)
skeleton	1.28% (1 of 78)
skin	0.2% (1 of 510)
spinal cord	1.39% (1 of 72)
tail	0.2% (1 of 510)
tail somite group	0.2% (1 of 510)
trachea	1.69% (1 of 59)
urinary system	1.69% (1 of 59)

1 Images

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X-ray

XRay Images Hind Leg and Hip

2 Images

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Human diseases caused by Chd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Chd1 (2 diseases)
Human diseases predicted to be associated with Chd1 (330 diseases)

The table below shows human diseases associated to Chd1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome			ORPHA:529965
Pilarowski-Bjornsson Syndrome			OMIM:617682

The table below shows human diseases predicted to be associated to Chd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Regional Odontodysplasia	Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D...	ORPHA:83450
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis	OMIM:603529
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Oral cleft	OMIM:611638
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari...	OMIM:204700
Amelogenesis Imperfecta	Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un...	ORPHA:88661
Microphthalmia, Syndromic 12	Retrognathia, Micrognathia, Anophthalmia, Microphthalmia	OMIM:615524
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Dextrocardia With Unusual Facies And Microphthalmia	Micrognathia, Anophthalmia, Cleft palate, Microphthalmia	OMIM:221950
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth	OMIM:615887
Amelogenesis Imperfecta, Type Ij	Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta	OMIM:617297
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Dentin Dysplasia, Type I	Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ...	OMIM:125400
Hemifacial Hyperplasia	Dental malocclusion, Hypoplasia of the maxilla	OMIM:133900
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel	OMIM:613211
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti...	ORPHA:766
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto...	OMIM:615631
Taurodontism, Microdontia, And Dens Invaginatus	Dens in dente, Taurodontia, Microdontia, Pulp calcification	OMIM:313490
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Splenomegaly	ORPHA:46532
Anencephaly 2	Anophthalmia, Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla	OMIM:619452
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Iron-Refractory Iron Deficiency Anemia	Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis	OMIM:206200
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology	OMIM:612529
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Oligodontia	Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg...	ORPHA:99798
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Fryns Microphthalmia Syndrome	Bilateral cleft lip and palate, Anophthalmia, Microphthalmia	OMIM:600776
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors	OMIM:114700
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Dentinogenesis Imperfecta, Shields Type Iii	Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ...	OMIM:125500
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr...	ORPHA:2972
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Amelogenesis Imperfecta, Type Ie	Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia	OMIM:301200
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ...	ORPHA:86841
Amelogenesis Imperfecta, Type Iiia	Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho...	ORPHA:83451
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala...	ORPHA:199306
Meckel Syndrome, Type 8	Cleft upper lip, Anophthalmia, Cleft palate, Microphthalmia	OMIM:613885
Otodental Syndrome	Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn...	ORPHA:2791
Amelogenesis Imperfecta, Type Ic	Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati...	OMIM:204650
Dentinogenesis Imperfecta	Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena...	ORPHA:49042
Amelogenesis Imperfecta, Type Ih	Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent...	OMIM:616221
Otodental Dysplasia	Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ...	OMIM:166750
Microphthalmia, Isolated 3	Anophthalmia, Microphthalmia	OMIM:611038
Amelogenesis Imperfecta, Type Ia	Taurodontia, Amelogenesis imperfecta, Generalized microdontia	OMIM:104530
Cyanosis, Transient Neonatal	Methemoglobinemia, Reticulocytosis, Anemia	OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani...	OMIM:613673
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Hydrolethalus	Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Anophthalmia, Bifid uvula, Unilateral c...	ORPHA:2189
Dental Anomalies And Short Stature	Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ...	OMIM:601216
Cerebrooculonasal Syndrome	High palate, U-Shaped upper lip vermilion, Long philtrum, Microdontia, Anophthalmia, Widely space...	ORPHA:66625
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po...	OMIM:224120
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal spaced incisors, Everted lower lip vermilion, Short philtrum, Anophthalmia, Thick vermil...	ORPHA:411986
Amelogenesis Imperfecta, Type If	Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color	OMIM:616270
Oculocerebrocutaneous Syndrome	Anophthalmia, Cleft palate, Microphthalmia	OMIM:164180
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A...	OMIM:616860
Amelogenesis Imperfecta, Type Iv	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta	OMIM:104510
Cockayne Syndrome Type 2	Anodontia, Widely spaced primary teeth, Hypoplasia of the primary teeth, Anophthalmia, Enamel hyp...	ORPHA:90322
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia	OMIM:615113
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Gingival bleeding, Anemia, Abnor...	ORPHA:98870
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Retrognathia, Anisocytosis, Micrognathia, Wide mouth	OMIM:604273
Dentin Dysplasia, Type Ii	Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification	OMIM:125420
Microphthalmia With Limb Anomalies	High palate, Cleft upper lip, Cleft palate, Retrognathia, Anophthalmia, Deep philtrum, Microphtha...	OMIM:206920
Trisomy 13	High, narrow palate, Malar flattening, Cleft palate, Abnormality of the dentition, Long philtrum,...	ORPHA:3378
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening	OMIM:122880
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Carious teeth	OMIM:619787
Split-Hand/Foot Malformation 3	High palate, Narrow mouth, Microretrognathia, Cleft palate, Hypoplasia of the maxilla	OMIM:246560
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Thin vermilion border, Premature loss of teeth, Short philtrum, Hypoplasia of the maxilla	OMIM:156510
Cleft Velum	Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate	ORPHA:99772
Maxillonasal Dysplasia	Tooth agenesis, Cleft palate, Open bite, Microdontia, Hypoplasia of the maxilla, Mandibular progn...	ORPHA:1248
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla	ORPHA:2776
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,...	OMIM:618849
Solitary Median Maxillary Central Incisor	Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Anophthalmia, Solitary median m...	OMIM:147250
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Anophthalmia Plus Syndrome	Bilateral cleft lip and palate, Anophthalmia, Cleft palate, Non-midline cleft lip	ORPHA:1104
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Cleft upper lip, Cleft palate, Persistence of hemoglobin F, Re...	OMIM:612561
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting...	OMIM:273050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt...	OMIM:300908
Cockayne Syndrome Type 1	Widely spaced primary teeth, Anodontia, Hypoplasia of the primary teeth, Abnormality of the denti...	ORPHA:90321
Failure Of Tooth Eruption, Primary	Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth	OMIM:125350
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism	Hypoplasia of the maxilla	OMIM:608432
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils, Carious teeth	ORPHA:2760
Holoprosencephaly 9	Cleft upper lip, Dental malocclusion, Hypoplasia of the premaxilla, Cleft palate, Malar flattenin...	OMIM:610829
Spondylospinal Thoracic Dysostosis	Micrognathia, Hypoplasia of the maxilla	OMIM:601809
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Epidermolysis Bullosa, Junctional 1A, Intermediate	Enamel hypoplasia, Oral mucosal blisters, Hypodontia, Carious teeth	OMIM:226650
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Enamel hypoplasia, Carious teeth	OMIM:614564
Oculodentodigital Dysplasia, Autosomal Recessive	Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi...	OMIM:257850
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ...	ORPHA:1028
Shaheen Syndrome	Enamel hypoplasia, Carious teeth	OMIM:615328
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers...	ORPHA:231226
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Rh Deficiency Syndrome	Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia...	ORPHA:71275
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Everted lower lip vermilion, Long philtrum, Deep philtrum, Open mouth	OMIM:137550
Hypomandibular Faciocranial Dysostosis	Pursed lips, Malar flattening, Micrognathia, Aglossia, Hypoplasia of the maxilla	OMIM:241310
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology	ORPHA:3196
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia	OMIM:616959
Mandibulofacial Dysostosis With Alopecia	Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,...	OMIM:616367
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures	Widely-spaced incisors, Thin upper lip vermilion, Hypoplasia of the maxilla, Smooth philtrum	OMIM:618737
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Short philtrum, Hypoplasia of the maxilla	ORPHA:93945
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Abnormally large globe, Ab...	ORPHA:363417
Frontonasal Dysplasia 1	Median cleft palate, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Median cleft lip, Mi...	OMIM:136760
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93950
Osteolysis Syndrome, Recessive	Hypoplasia of the maxilla	OMIM:259610
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Persistence of primary teeth, Extramedullary hematopoiesis, Hepatosplen...	OMIM:259710
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Tooth malposition, Cleft palate, Failure of eruption of permanent teeth, Anophthalmia, Bifid uvul...	ORPHA:2250
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	High palate, Malar flattening, Retrognathia, Micrognathia, Microcytic anemia, HbH hemoglobin	ORPHA:98791
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Long philtrum, Anophthalmia, Hypoplasia of the maxilla, Mandibular prognathi...	ORPHA:1101
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Crowded maxillary incisors, Hypoplasia of the maxilla	ORPHA:397973
Trisomy 1Q	Anophthalmia, Narrow mouth, Microretrognathia, Cleft palate	ORPHA:261344
Teeth, Supernumerary	Supernumerary tooth, Mesiodens	OMIM:187100
Lujan-Fryns Syndrome	High palate, Abnormality of the dentition, Short philtrum, Micrognathia, Hypoplasia of the maxill...	ORPHA:776
20P12.3 Microdeletion Syndrome	Long philtrum, Hypoplasia of the maxilla, Narrow mouth, Malar flattening	ORPHA:261295
Microphthalmia With Brain And Digit Anomalies	High palate, Anophthalmia, Microphthalmia	ORPHA:139471
Impacted Teeth, Multiple	Multiple impacted teeth, Supernumerary tooth	OMIM:308280
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Short philtrum, Diastema, Conical tooth, Hypoplasia of the maxilla	OMIM:619142
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Cleft palate, Microphthalmia	OMIM:610125
Malan Syndrome	Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o...	OMIM:614753
Beta-Thalassemia	Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia	ORPHA:848
Cerebrooculonasal Syndrome	High palate, U-Shaped upper lip vermilion, Narrow palate, Cleft palate, Malar flattening, Optic n...	OMIM:605627
Intellectual Developmental Disorder, X-Linked, Syndromic 14	High palate, Mandibular prognathia, Hypoplasia of the maxilla	OMIM:300676
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome	Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth	ORPHA:3145
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla	OMIM:618302
Matthew-Wood Syndrome	Abnormal spleen morphology, Anophthalmia, Microphthalmia	ORPHA:2470
Craniofacial-Deafness-Hand Syndrome	Narrow mouth, Hypoplasia of the maxilla	ORPHA:1529
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormal palate morphology, Narrow mouth, Malar flattening, Prominence of the premaxilla	ORPHA:2412
Aarskog-Scott Syndrome	Cleft upper lip, Cleft palate, Everted lower lip vermilion, Abnormality of the dentition, Long ph...	ORPHA:915
Walker-Warburg Syndrome	Cleft palate, Anophthalmia, Bifid uvula, Microphthalmia, Submucous cleft hard palate	ORPHA:899
Cohen Syndrome	Macrodontia of permanent maxillary central incisor, High, narrow palate, Open mouth, Micrognathia...	OMIM:216550
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Amelocerebrohypohidrotic Syndrome	Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec...	ORPHA:1946
Stickler Syndrome Type 1	Long philtrum, Hypoplasia of the maxilla, Cleft palate	ORPHA:90653
Axenfeld-Rieger Syndrome	Hypodontia, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Aplasia/Hypoplas...	ORPHA:782
Jalili Syndrome	Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color	ORPHA:1873
Microphthalmia, Syndromic 9	Multilobulated spleen, Micrognathia, Anophthalmia, Bilateral microphthalmos, Hypoplastic spleen	OMIM:601186
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Craniolenticulosutural Dysplasia	High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e...	ORPHA:50814
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Jackson-Weiss Syndrome	Abnormal palate morphology, Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:1540
Premature Aging Syndrome, Penttinen Type	Thin vermilion border, Micrognathia, Hypoplasia of the maxilla, Delayed eruption of teeth	OMIM:601812
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	High palate, Dental crowding, Macroglossia, Retrognathia, Reduced alpha/beta synthesis ratio, Lon...	OMIM:141750
Kdm5C-Related Syndromic X-Linked Intellectual Disability	High palate, Hypoplasia of the maxilla	ORPHA:85279
Pycnodysostosis	High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon...	ORPHA:763
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Microphthalmia	ORPHA:77298
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth, Anemia of inadequate production, Anemia, Splenomegaly	OMIM:612714
Keipert Syndrome	Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow	ORPHA:2662
Multicentric Carpotarsal Osteolysis Syndrome	Micrognathia, Hypoplasia of the maxilla	OMIM:166300
Andersen Cardiodysrhythmic Periodic Paralysis	High palate, Prominent frontal sinuses, Persistence of primary teeth, Cleft palate, Malar flatten...	OMIM:170390
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Microphthalmia	OMIM:167730
Hereditary Methemoglobinemia	Methemoglobinemia, Lip discoloration	ORPHA:621
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Persistence of primary teeth, Dental crowding	OMIM:619769
Vacterl With Hydrocephalus	Retrognathia, Micrognathia, Anophthalmia, Microphthalmia	ORPHA:3412
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Hypoplasia of the maxilla, Malar flattening	OMIM:109120
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal palate morphology, Hypoplasia of the maxilla, Malar flattening	ORPHA:93262
Holoprosencephaly	Tooth agenesis, Abnormality of the spleen, Anophthalmia, Hypoplasia of the zygomatic bone, Deep p...	ORPHA:2162
Dysostosis, Stanescu Type	Tooth agenesis, Macroglossia, Abnormality of the dentition, Carious teeth, Hypoplasia of the zygo...	ORPHA:1798
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Thick vermilion border, Long philtrum, Microretrognathia, Hypoplasia of the maxilla	ORPHA:228396
Distal Limb Deficiencies-Micrognathia Syndrome	High palate, Narrow mouth, Microretrognathia, Cleft palate, Microdontia, Hypoplasia of the maxill...	ORPHA:1307
Rapp-Hodgkin Syndrome	Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Microdonti...	OMIM:129400
Craniometadiaphyseal Dysplasia	High palate, Malar flattening, Abnormally large globe, Microdontia, Carious teeth, Natal tooth, D...	OMIM:269300
Proboscis Lateralis	High palate, Abnormal facial skeleton morphology, Optic nerve hypoplasia, Long philtrum, Abnormal...	ORPHA:141099
Cohen Syndrome	Gingival overgrowth, Tooth agenesis, Microphthalmia, Aplasia/Hypoplasia of the tongue, High, narr...	ORPHA:193
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ...	ORPHA:231214
Axenfeld-Rieger Syndrome, Type 2	Hypodontia, Everted lower lip vermilion, Short philtrum, Microdontia, Hypoplasia of the maxilla, ...	OMIM:601499
Nager Syndrome	Wide mouth, Cleft palate, Micrognathia, Hypoplasia of the zygomatic bone, Hypoplasia of the maxil...	ORPHA:245
Meckel Syndrome	Aplasia/Hypoplasia of the tongue, Cleft palate, Micrognathia, Accessory spleen, Anophthalmia, Fur...	ORPHA:564
Pde4D Haploinsufficiency Syndrome	Malar flattening, Micrognathia, Short philtrum, Long philtrum, Hypoplasia of the maxilla, Mandibu...	ORPHA:439822
Lowry-Maclean Syndrome	High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Downturned corners of mouth, Hypop...	ORPHA:2409
Treacher-Collins Syndrome	High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ...	ORPHA:861
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Malar flattening, Cleft palate, Micrognathia, Hypoplasia of the maxilla	ORPHA:79113
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem...	OMIM:618278
14Q22Q23 Microdeletion Syndrome	Malar flattening, Micrognathia, Anophthalmia, Downturned corners of mouth, Optic nerve aplasia	ORPHA:264200
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla	OMIM:608154
Mohr Syndrome	High palate, Accessory oral frenulum, Agenesis of central incisor, Cleft palate, Malar flattening...	OMIM:252100
Atelosteogenesis, Type Iii	Micrognathia, Malar flattening, Hypoplasia of the maxilla, Cleft palate	OMIM:108721
Microphthalmia, Syndromic 2	Dental malocclusion, Persistence of primary teeth, Supernumerary tooth, Radiculomegaly, Oligodont...	OMIM:300166
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Long philtrum, Anophthalmia, Microphthalmia	OMIM:615877
Marshall Syndrome	High palate, Thick upper lip vermilion, Cleft palate, Malar flattening, Abnormality of the dentit...	ORPHA:560
Coffin-Lowry Syndrome	High palate, Wide mouth, Narrow palate, Hypodontia, Everted lower lip vermilion, Delayed eruption...	ORPHA:192
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup...	OMIM:104570
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	High palate, Hypoplasia of the maxilla	OMIM:218000
Acrodysostosis	Open bite, Delayed eruption of teeth, Hypoplasia of the maxilla, Open mouth, Mandibular prognathia	ORPHA:950
Microphthalmia With Limb Anomalies	High palate, Cleft upper lip, Hypoplasia of the premaxilla, Cleft palate, Thin vermilion border, ...	ORPHA:1106
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	U-Shaped upper lip vermilion, Macroglossia, Malar flattening, Reduced alpha/beta synthesis ratio,...	OMIM:301040
Fibular Hemimelia	Thrombocytopenia, Anophthalmia	ORPHA:93323
Nablus Mask-Like Facial Syndrome	High palate, Narrow mouth, Retrognathia, Abnormality of the dentition, Long philtrum, Hypoplasia ...	OMIM:608156
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Cleft upper lip, Hypodontia, Cleft palate, Widely spaced teeth, Conical tooth, Hypoplasia of the ...	OMIM:106260
Distal Xq28 Microduplication Syndrome	High palate, Short lingual frenulum, Hypoplasia of the maxilla, Open mouth, Dental crowding, Thic...	ORPHA:293939
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Subaortic Stenosis--Short Stature Syndrome	Narrow mouth, Malar flattening, Diastema, Hypoplasia of the maxilla, Microphthalmia, Short upper lip	OMIM:271960
Crouzon Syndrome	Narrow palate, Hypoplasia of the maxilla	ORPHA:207
Andersen-Tawil Syndrome	High palate, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Oligodonti...	ORPHA:37553
Angelman Syndrome	Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue, Hypoplasia of the maxilla, Mand...	OMIM:105830
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	High palate, Micrognathia, Short philtrum, Deep philtrum, Hypoplasia of the maxilla, Open mouth, ...	OMIM:309520
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	High palate, Micrognathia, Diastema, Furrowed tongue, Hypoplasia of the maxilla, Mandibular progn...	OMIM:300534
Kagami-Ogata Syndrome	Splenomegaly, Retrognathia, Micrognathia, Long philtrum, Hypoplasia of the maxilla	OMIM:608149
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Congenital Erythropoietic Porphyria	Erythrodontia, Splenomegaly, Anisocytosis, Leukopenia, Hemolytic anemia, Poikilocytosis, Reticulo...	ORPHA:79277
Frontorhiny	Cleft palate, Bifid tongue, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Microphthalmia	ORPHA:391474
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Long philtrum, Hypoplasia of the maxilla, Submucous cleft hard palate	ORPHA:178303
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Micrognathia, Anophthalmia, Mandibular aplasia, Microphthalmia, Abnormal dental ena...	ORPHA:2556
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Cleft palate	OMIM:614261
Microgastria-Limb Reduction Defects Association	Anophthalmia, Splenogonadal fusion, Asplenia	OMIM:156810
Beta-Thalassemia Intermedia	Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E...	ORPHA:231222
Meier-Gorlin Syndrome 4	Micrognathia, Narrow mouth, Hypoplasia of the maxilla, Thick lower lip vermilion	OMIM:613804
Martsolf Syndrome 1	High palate, Tooth malposition, Micrognathia, Short philtrum, Long philtrum, Hypoplasia of the ma...	OMIM:212720
Carpenter Syndrome 1	High palate, Persistence of primary teeth, Malar flattening, Micrognathia, Agenesis of permanent ...	OMIM:201000
Van Maldergem Syndrome 2	High palate, Dental malocclusion, Malar flattening, Micrognathia, Downturned corners of mouth, Ir...	OMIM:615546
Van Maldergem Syndrome 1	High palate, Dental malocclusion, Malar flattening, Micrognathia, Downturned corners of mouth, Ir...	OMIM:601390
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Microphthalmia	OMIM:206900
Focal Dermal Hypoplasia	Cleft upper lip, Dental malocclusion, Hypodontia, Cleft palate, Oligodontia, Anophthalmia, Delaye...	OMIM:305600
Blackfan-Diamond Anemia	Increased mean corpuscular volume, High palate, Neutropenia, Persistence of hemoglobin F, Microgn...	ORPHA:124
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Long philtrum, Anophthalmia, Microphthalmia, Thick vermilion border, Leukemia	ORPHA:2526
Barber-Say Syndrome	High palate, Wide mouth, Dental malocclusion, Gingival overgrowth, Velopharyngeal insufficiency, ...	OMIM:209885
Charge Syndrome	Cleft upper lip, Narrow mouth, Abnormal soft palate morphology, Cleft palate, Anophthalmia, Delay...	ORPHA:138
Pfeiffer Syndrome	High palate, Mandibular prognathia, Hypoplasia of the maxilla, Dental crowding	OMIM:101600
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	High palate, Thin vermilion border, Long philtrum, Hypoplasia of the maxilla, Smooth philtrum	ORPHA:481152
Elsahy-Waters Syndrome	High palate, Dental malocclusion, Supernumerary tooth, Malar flattening, Impacted tooth, Long phi...	OMIM:211380
Fraser Syndrome 1	Cleft upper lip, Dental malocclusion, Cleft palate, Anophthalmia, Difficulty in tongue movements,...	OMIM:219000
Cowden Syndrome 5	High palate, Narrow mouth, Micrognathia, Furrowed tongue, Hypoplasia of the maxilla	OMIM:615108
Acrofacial Dysostosis, Cincinnati Type	Cleft palate, Retrognathia, Micrognathia, Hypoplasia of the maxilla, Aplastic zygomatic arch	OMIM:616462
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	U-Shaped upper lip vermilion, Abnormal hemoglobin, Macroglossia, Everted lower lip vermilion, Abn...	ORPHA:847
Dyskeratosis Congenita	Periodontitis, Taurodontia, Hypodontia, Splenomegaly, Abnormality of the dentition, Carious teeth...	ORPHA:1775
Crouzon Syndrome	Dental crowding, Mandibular prognathia, Hypoplasia of the maxilla	OMIM:123500
Fraser Syndrome	High palate, Dental malocclusion, Cleft upper lip, Bifid tongue, Anophthalmia, Oral cleft, Microp...	ORPHA:2052
Cowden Syndrome 1	High palate, Narrow mouth, Lymphopenia, Micrognathia, Furrowed tongue, Hypoplasia of the maxilla	OMIM:158350
Axenfeld-Rieger Syndrome, Type 1	Hypodontia, Short philtrum, Oligodontia, Microdontia, Rieger anomaly, Hypoplasia of the maxilla, ...	OMIM:180500
Aarskog-Scott Syndrome	Cleft upper lip, Hypodontia, Cleft palate, Curved linear dimple below the lower lip, Hypoplasia o...	OMIM:305400
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Oligodontia, Hypoplasia of the maxilla	ORPHA:2095
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Mandibular condyle hypoplasia, Micrognathia	ORPHA:2975
Meier-Gorlin Syndrome 5	Micrognathia, Long philtrum, Hypoplasia of the maxilla, Thick vermilion border, Submucous cleft h...	OMIM:613805
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Anophthalmia, Microphthalmia	ORPHA:2538
Cowden Syndrome 6	High palate, Narrow mouth, Micrognathia, Furrowed tongue, Hypoplasia of the maxilla	OMIM:615109
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Tooth agenesis, Abnormality of the dentition, Hypoplasia of the maxilla, Thick vermili...	ORPHA:238468
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	Anodontia, Hypoplasia of the maxilla	OMIM:211370
Myhre Syndrome	Narrow mouth, Cleft palate, Thin vermilion border, Gingival cleft, Bifid uvula, Unilateral cleft ...	ORPHA:2588
Lead Poisoning	Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Delayed eruption of teeth	ORPHA:330015
Branchioskeletogenital Syndrome	Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Bif...	ORPHA:1299
Joubert Syndrome 21	Anophthalmia	OMIM:615636
Acrodysostosis 1 With Or Without Hormone Resistance	Dental malocclusion, Hypodontia, Delayed eruption of teeth, Hypoplasia of the maxilla, Mandibular...	OMIM:101800
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla	OMIM:614886
Apert Syndrome	Narrow palate, Cleft palate, Delayed eruption of teeth, Bifid uvula, Hypoplasia of the maxilla, M...	ORPHA:87
Geroderma Osteodysplasticum	Mandibular prognathia, Periodontitis, Hypoplasia of the maxilla, Malar flattening	OMIM:231070
Microphthalmia, Syndromic 6	High palate, Cleft palate, Retrognathia, Micrognathia, Anophthalmia, Bifid uvula, Microphthalmia,...	OMIM:607932
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Weill-Marchesani Syndrome 1	Microspherophakia, Narrow palate, Tooth malposition, Hypoplasia of the maxilla, Abnormality of de...	OMIM:277600
Enamel-Renal Syndrome	Abnormal dental enamel morphology, Gingival overgrowth, Delayed eruption of teeth, Yellow-brown d...	ORPHA:1031
Brachytelephalangic Chondrodysplasia Punctata	Optic nerve hypoplasia, Hypoplasia of the maxilla, Optic disc hypoplasia, Hypoplasia of the anter...	ORPHA:79345
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Taurodontia, Hypodontia, Everted lower lip vermilion, Microdontia, Abnormal oral mucosa morpholog...	OMIM:305100
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:3044
Branchiooculofacial Syndrome	Cleft upper lip, Cleft of chin, Cleft palate, Malar flattening, Abnormality of the dentition, Mic...	OMIM:113620
Marshall-Smith Syndrome	High palate, Gingival overgrowth, Microretrognathia, Prominence of the premaxilla, Retrognathia, ...	OMIM:602535
3Mc Syndrome 2	Cleft upper lip, Cleft palate, Prominence of the premaxilla, Downturned corners of mouth, Broad p...	OMIM:265050
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l...	OMIM:260400
Charge Syndrome	Cleft upper lip, Lymphopenia, Malar flattening, Cleft palate, Micrognathia, Anophthalmia, Unilate...	OMIM:214800
Craniofacial Microsomia	Cleft upper lip, Wide mouth, Transverse facial cleft, Cleft palate, Malar flattening, Micrognathi...	OMIM:164210
Cerebrofacioarticular Syndrome	Micrognathia, Narrow mouth, Hypoplasia of the maxilla, Irregular dentition	ORPHA:314679
Van Den Ende-Gupta Syndrome	High palate, Narrow mouth, High, narrow palate, Cleft palate, Everted lower lip vermilion, Malar ...	OMIM:600920
Thymoma	Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia	ORPHA:99867
Goldberg-Shprintzen Syndrome	Thick vermilion border, Short philtrum, Hypoplasia of the maxilla, Everted lower lip vermilion	OMIM:609460
Ear-Patella-Short Stature Syndrome	Narrow mouth, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Hypopla...	ORPHA:2554
Shprintzen-Goldberg Craniosynostosis Syndrome	High palate, Dental malocclusion, Narrow palate, Micrognathia, Hypoplasia of the maxilla	OMIM:182212
Aicardi Syndrome	Cleft upper lip, Cleft palate, Prominence of the premaxilla, Short philtrum, Microphthalmia	ORPHA:50
Distal Monosomy 19P13.3	Short philtrum, Hypoplasia of the maxilla, Cleft palate	ORPHA:96129
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cleft palate, Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Microphthalmia, Aplasia/...	ORPHA:306542
Meier-Gorlin Syndrome 3	Narrow mouth, Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Thick vermilion border	OMIM:613803
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Gingival overgrowth, Hypoplasia of the maxilla, Delayed eruption of teeth	OMIM:259600
Saethre-Chotzen Syndrome	Narrow palate, Hypoplasia of the maxilla, Cleft palate, Open bite	ORPHA:794
Weill-Marchesani Syndrome 2	High palate, Microspherophakia, Narrow palate, Tooth malposition, Hypoplasia of the maxilla, Abno...	OMIM:608328
Stickler Syndrome	Cleft upper lip, Tooth agenesis, Cleft palate, Open bite, Glossoptosis, Micrognathia, Malar flatt...	ORPHA:828
Myhre Syndrome	Narrow mouth, Cleft palate, Malar flattening, Short philtrum, Cleft lip, Hypoplasia of the maxill...	OMIM:139210
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	High palate, Cleft upper lip, Gingival overgrowth, Cleft palate, Micrognathia, Microdontia of pri...	OMIM:213980
Shprintzen-Goldberg Syndrome	Retrognathia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate	ORPHA:2462
Aicardi Syndrome	Cleft upper lip, Microphthalmia, Cleft palate, Prominence of the premaxilla	OMIM:304050
Meier-Gorlin Syndrome 1	High palate, Narrow mouth, Cleft palate, Micrognathia, Microdontia, Hypoplasia of the maxilla, Th...	OMIM:224690
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Prolonged G2 phase of cell cycle	OMIM:227645
Rubinstein-Taybi Syndrome 1	High palate, Dental malocclusion, Narrow mouth, Narrow palate, High, narrow palate, Cleft palate,...	OMIM:180849
Microphthalmia, Syndromic 1	High palate, Cleft upper lip, High, narrow palate, Tooth malposition, Anophthalmia, Oral cleft, A...	OMIM:309800
Aarskog Syndrome, Autosomal Dominant	Cleft upper lip, Cleft palate, Long philtrum, Curved linear dimple below the lower lip, Macrocyti...	OMIM:100050
Bartsocas-Papas Syndrome 1	Cleft upper lip, Cleft palate, Micrognathia, Hypoplasia of the maxilla, Microphthalmia, Oral syne...	OMIM:263650
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle	OMIM:600901
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Prolonged G2 phase of cell cycle	OMIM:227646
Craniosynostosis And Dental Anomalies	High palate, Dental malocclusion, Narrow palate, Supernumerary tooth, Delayed eruption of teeth, ...	OMIM:614188
Fanconi Anemia, Complementation Group A	Prolonged G2 phase of cell cycle	OMIM:227650
Zttk Syndrome	High palate, Narrow mouth, Thin vermilion border, Abnormality of the dentition, Short philtrum, B...	OMIM:617140
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Cleft upper lip, Cleft palate, Malar flattening, Absence of Stensen duct, Oligodontia, Microdonti...	OMIM:129900
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Narrow mouth, Cleft palate, Micrognathia, Oral cleft, Microphthalmia	ORPHA:2166
Greenberg Dysplasia	Retrognathia, Micrognathia, Hepatosplenomegaly, Hypoplasia of the maxilla	OMIM:215140
Ablepharon Macrostomia Syndrome	Wide mouth, Thin vermilion border, Microdontia, Hypoplasia of the zygomatic bone, Hypoplasia of t...	ORPHA:920
Holoprosencephaly 7	Hypoplasia of the premaxilla, Bilateral cleft lip and palate, Median cleft lip and palate, Solita...	OMIM:610828
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Cleft upper lip, Cleft palate, Malar flattening, Absence of Stensen duct, Microdontia, Carious te...	OMIM:604292
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Narrow mouth, Macroglossia, Retrognathia, Micrognathia, Hepatosplenomegaly, Short philtrum, Long ...	ORPHA:96334
Cutis Laxa, Autosomal Recessive, Type Ib	High palate, Micrognathia, Prominence of the premaxilla	OMIM:614437
Saethre-Chotzen Syndrome	Narrow palate, Cleft of chin, Malar flattening, Cleft palate, Buphthalmos, Hypoplasia of the maxilla	OMIM:101400
Floating-Harbor Syndrome	Wide mouth, Persistence of primary teeth, Short philtrum, Oligodontia, Microdontia, Carious teeth...	ORPHA:2044
Peters-Plus Syndrome	Cleft upper lip, Cleft palate, Thin vermilion border, Micrognathia, Long philtrum, Short lingual ...	OMIM:261540
Holoprosencephaly 2	Malar flattening, Bifid uvula, Bilateral cleft lip and palate, Median cleft lip and palate, Solit...	OMIM:157170
Singleton-Merten Syndrome 1	Eruption failure, Hypoplasia of the tooth germ, Carious teeth, Hypoplasia of the maxilla, Thin up...	OMIM:182250
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Cleft palate, Thin vermilion border, Optic nerve hypoplasia, Short philtrum, Submucous cleft soft...	ORPHA:500150
Primrose Syndrome	High palate, Narrow mouth, Malar flattening, Increased size of the mandible, Torus palatinus, Dow...	OMIM:259050
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla	OMIM:300106
Pilarowski-Bjornsson Syndrome		OMIM:617682
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome		ORPHA:529965

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Chd1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Chd1.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Chromatin Regulator CHD1 Remodels the Immunosuppressive Tumor Microenvironment in PTEN-Deficient Prostate Cancer.	Cancer discovery (May 2020)	Chd1^{tm1c(KOMP)Wtsi} Chd1^{tm1a(KOMP)Wtsi}	32385075
Organ-specific regulation of CHD1 by acute PTEN and p53 loss in mice.	Biochemical and biophysical research communications (February 2020)	Chd1^{tm1a(KOMP)Wtsi}	32115152
Emergence of hematopoietic stem and progenitor cells involves a Chd1-dependent increase in total nascent transcription.	Proceedings of the National Academy of Sciences of the United States of America (March 2015)	Chd1^{tm1b(KOMP)Rsan}	PMC4394284
Chd1 is essential for the high transcriptional output and rapid growth of the mouse epiblast.	Development (Cambridge, England) (December 2014)	Chd1^{tm1c(KOMP)Rsan} Chd1^{tm1b(KOMP)Rsan}	PMC4299150

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MGI Allele	Allele Type	Produced
Chd1^{em1(IMPC)Wtsi}	Point Mutation	Mice
Chd1^{em2(IMPC)Wtsi}	Point Mutation	Mice
Chd1^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Chd1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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Gene: Chd1 MGI:88393

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