Gene: Psph MGI:97788

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Gene Summary

Name:
phosphoserine phosphatase
Synonyms:
PSPase

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
pallor Psphtm1.1(KOMP)Vlcg HOM E15.5 0.00
microphthalmia Psphtm1.1(KOMP)Vlcg HOM E15.5 0.00
edema Psphtm1.1(KOMP)Vlcg HOM E15.5 0.00
decreased circulating triglyceride level Psphtm1.1(KOMP)Vlcg HET Early adult 9.07×10-05
abnormal embryo size Psphtm1.1(KOMP)Vlcg HOM E12.5 0.00
preweaning lethality, complete penetrance Psphtm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal eye morphology Psphtm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal embryo size Psphtm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal heart morphology Psphtm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal craniofacial morphology Psphtm1.1(KOMP)Vlcg HOM E15.5 0.00
thrombocytopenia Psphtm1.1(KOMP)Vlcg HET Early adult 1.44×10-05
small adrenal glands Psphtm1.1(KOMP)Vlcg HET Early adult 0.00
pale placenta Psphtm1.1(KOMP)Vlcg HOM E15.5 0.00
anophthalmia Psphtm1.1(KOMP)Vlcg HOM E15.5 0.00
preweaning lethality, complete penetrance Psphtm1a(EUCOMM)Hmgu HOM   Early adult 0.00
pale yolk sac Psphtm1.1(KOMP)Vlcg HOM E12.5 0.00

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (1 of 1)
Cartilage tissue N/A heterozygote 50% (1 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 50% (1 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 100% (2 of 2)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 5)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 0.0% (0 of 5)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 0.0% (0 of 5)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 5)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 5)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 5)
N/A heterozygote 40% (2 of 5)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

27 Images

X-ray

XRay Images Whole Body Lateral Orientation

28 Images

Embryo LacZ

LacZ images wholemount

20 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

29 Images

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

Gross Morphology Embryo E14.5-E15.5

Images

9 Images

Adult LacZ

LacZ Images Section

10 Images

Eye Morphology

Images Slit Lamp

3 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Legacy Phenotype Associated Images

View all 80 images

Human diseases caused by Psph 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Phosphoserine Phosphatase Deficiency
OMIM:614023
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
ORPHA:79350

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia 4
OMIM:612004
Chromosome 18Q Deletion Syndrome
OMIM:601808
Emanuel Syndrome
ORPHA:96170
Fg Syndrome Type 1
ORPHA:93932
Koolen-De Vries Syndrome Due To A Point Mutation
ORPHA:363965
17Q21.31 Microdeletion Syndrome
ORPHA:363958
Spondylodysplastic Ehlers-Danlos Syndrome
ORPHA:536471
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
ORPHA:508498
Pallister-Hall Syndrome
OMIM:146510
Emanuel Syndrome
OMIM:609029
Holoprosencephaly
ORPHA:2162
Mosaic Trisomy 1
ORPHA:1692
Thrombocytopenic Purpura, Autoimmune
OMIM:188030
Bleeding Disorder, Platelet-Type, 9
OMIM:614200
Thrombocytopenia 2
OMIM:188000
22Q11.2 Deletion Syndrome
ORPHA:567
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
OMIM:613112
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
OMIM:301056
Acrofacial Dysostosis 1, Nager Type
OMIM:154400
Thrombocytopenia, Cyclic
OMIM:188020
Cardiac, Facial, And Digital Anomalies With Developmental Delay
OMIM:618164
Stankiewicz-Isidor Syndrome
OMIM:617516
Mullegama-Klein-Martinez Syndrome
OMIM:301022
Osteopathia Striata-Cranial Sclerosis Syndrome
ORPHA:2780
Meckel Syndrome, Type 1
OMIM:249000
Jacobsen Syndrome
ORPHA:2308
Johnson Neuroectodermal Syndrome
OMIM:147770
Acrootoocular Syndrome
ORPHA:2980
Catel-Manzke Syndrome
OMIM:616145
Developmental Delay With Or Without Dysmorphic Facies And Autism
OMIM:618454
Variant Abeta2M Amyloidosis
ORPHA:314652
Recombinant Chromosome 8 Syndrome
OMIM:179613
Lowry-Maclean Syndrome
ORPHA:2409
Kaufman Oculocerebrofacial Syndrome
OMIM:244450
Pigmented Nodular Adrenocortical Disease, Primary, 3
OMIM:614190
Charge Syndrome
ORPHA:138
Sandestig-Stefanova Syndrome
OMIM:618804
Autosomal Recessive Multiple Pterygium Syndrome
ORPHA:2990
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
OMIM:617877
Smith-Lemli-Opitz Syndrome
ORPHA:818
Amegakaryocytic Thrombocytopenia, Congenital
OMIM:604498
Thrombocytopenia 7
OMIM:619130
Femoral-Facial Syndrome
ORPHA:1988
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
OMIM:264475
Wolf-Hirschhorn Syndrome
ORPHA:280
Pallister-Hall Syndrome
ORPHA:672
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
ORPHA:85275
Distal Monosomy 10Q
ORPHA:96148
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
ORPHA:363444
Johnson Neuroectodermal Syndrome
ORPHA:2316
Zttk Syndrome
OMIM:617140
Distal Monosomy 7Q36
ORPHA:1636
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
ORPHA:284169
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
ORPHA:2516
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
ORPHA:1166
Ritscher-Schinzel Syndrome 1
OMIM:220210
8Q24.3 Microdeletion Syndrome
ORPHA:508488
Triploidy
ORPHA:3376
Doors Syndrome
ORPHA:79500
Monosomy 22
ORPHA:96123
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
OMIM:124900
1P36 Deletion Syndrome
ORPHA:1606
Trisomy 18
ORPHA:3380
Cooper-Jabs Syndrome
ORPHA:1488
Kleefstra Syndrome
ORPHA:261494
Autosomal Recessive Robinow Syndrome
ORPHA:1507
Rabson-Mendenhall Syndrome
ORPHA:769
Platelet Glycoprotein Iv Deficiency
OMIM:608404
Autosomal Recessive Spondylocostal Dysostosis
ORPHA:2311
Wolf-Hirschhorn Syndrome
OMIM:194190
Apert Syndrome
ORPHA:87
Short-Rib Thoracic Dysplasia 12
OMIM:269860
Lateral Meningocele Syndrome
ORPHA:2789
Aminopterin/Methotrexate Embryofetopathy
ORPHA:1908
Mental Retardation, Autosomal Dominant 21
OMIM:615502
Smith-Lemli-Opitz Syndrome
OMIM:270400
14Q24.1Q24.3 Microdeletion Syndrome
ORPHA:401935
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
ORPHA:231393
Thrombocytopenia-Absent Radius Syndrome
OMIM:274000
Septopreoptic Holoprosencephaly
ORPHA:280195
16P13.11 Microdeletion Syndrome
ORPHA:261236
Opitz Gbbb Syndrome
ORPHA:2745
Microphthalmia, Isolated 1
OMIM:251600
Gombo Syndrome
OMIM:233270
Hemifacial Microsomia
OMIM:164210
Kapur-Toriello Syndrome
ORPHA:2328
Congenital Hypothyroidism
ORPHA:442
Pancytopenia And Occlusive Vascular Disease
OMIM:167850
Mycophenolate Mofetil Embryopathy
ORPHA:268249
Distal 22Q11.2 Microdeletion Syndrome
ORPHA:261330
Diabetic Embryopathy
ORPHA:1926
Charge Syndrome
OMIM:214800
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
OMIM:618929
Mandibulofacial Dysostosis-Microcephaly Syndrome
ORPHA:79113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
OMIM:236670
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
ORPHA:96334
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
ORPHA:513456
Myhre Syndrome
OMIM:139210
Mosaic Variegated Aneuploidy Syndrome 2
OMIM:614114
Phaver Syndrome
ORPHA:2876
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
OMIM:301040
Chromosome 1P36 Deletion Syndrome
OMIM:607872
Intellectual Developmental Disorder, X-Linked, Syndromic 34
OMIM:300967
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
OMIM:618651
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
OMIM:213980
Robinow Syndrome
ORPHA:97360
Mosaic Variegated Aneuploidy Syndrome
ORPHA:1052
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
ORPHA:226307
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
OMIM:210710
Schinzel-Giedion Syndrome
ORPHA:798
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
OMIM:617506
Fanconi Anemia, Complementation Group B
OMIM:300514
Microphthalmia, Syndromic 3
OMIM:206900
Meier-Gorlin Syndrome 1
OMIM:224690
Monosomy 18P
ORPHA:1598
Lissencephaly Syndrome, Norman-Roberts Type
ORPHA:89844
Pseudotrisomy 13 Syndrome
OMIM:264480
Benign Schwannoma
ORPHA:252164
Oculoauriculovertebral Spectrum With Radial Defects
ORPHA:2549
Kabuki Syndrome 2
OMIM:300867
Kleefstra Syndrome Due To 9Q34 Microdeletion
ORPHA:96147
Diamond-Blackfan Anemia 7
OMIM:612562
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
ORPHA:369950
Hypertelorism, Microtia, Facial Clefting Syndrome
OMIM:239800
Opitz Gbbb Syndrome, Type Ii
OMIM:145410
Van Maldergem Syndrome 1
OMIM:601390
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
ORPHA:371428
Transaldolase Deficiency
OMIM:606003
Van Maldergem Syndrome 2
OMIM:615546
Gm1 Gangliosidosis
ORPHA:354
Cleft Palate, Cardiac Defects, And Mental Retardation
OMIM:600987
Holoprosencephaly 5
OMIM:609637
Cranioectodermal Dysplasia 2
OMIM:613610
Mosaic Trisomy 16
ORPHA:1708
Bleeding Disorder, Platelet-Type, 16
OMIM:187800
Slc35A2-Cdg
ORPHA:356961
17Q24.2 Microdeletion Syndrome
ORPHA:529962
Acrocardiofacial Syndrome
ORPHA:2008
Congenital Heart Defects And Skeletal Malformations Syndrome
OMIM:617602
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
ORPHA:73272
D-Bifunctional Protein Deficiency
OMIM:261515
Microform Holoprosencephaly
ORPHA:280200
Robinow Syndrome, Autosomal Recessive 1
OMIM:268310
Thanatophoric Dysplasia Type 2
ORPHA:93274
Cornelia De Lange Syndrome
ORPHA:199
Kabuki Syndrome
ORPHA:2322
Double Outlet Right Ventricle
ORPHA:3426
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
ORPHA:1770
Microphthalmia, Isolated, With Coloboma 5
OMIM:611638
Carpenter Syndrome 1
OMIM:201000
Microphthalmia, Isolated, With Coloboma 10
OMIM:616428
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
ORPHA:500150
Kbg Syndrome
ORPHA:2332
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
ORPHA:261552
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
ORPHA:2570
Fryns Syndrome
ORPHA:2059
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
ORPHA:990
Cerebrooculofacioskeletal Syndrome 3
OMIM:616570
Isolated Klippel-Feil Syndrome
ORPHA:2345
Isotretinoin-Like Syndrome
ORPHA:2306
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
ORPHA:1120
Beemer Lethal Malformation Syndrome
OMIM:209970
Aicardi Syndrome
OMIM:304050
Aarskog-Scott Syndrome
ORPHA:915
Microphthalmia, Syndromic 12
OMIM:615524
Cenani-Lenz Syndrome
ORPHA:3258
Koolen-De Vries Syndrome
OMIM:610443
Neu-Laxova Syndrome 1
OMIM:256520
Kbg Syndrome
OMIM:148050
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
ORPHA:521308
Jacobsen Syndrome
OMIM:147791
14Q22Q23 Microdeletion Syndrome
ORPHA:264200
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
OMIM:613571
Charcot-Marie-Tooth Disease Type 4C
ORPHA:99949
Lambotte Syndrome
OMIM:245552
Nanophthalmos 1
OMIM:600165
Microphthalmia, Isolated 7
OMIM:613704
Nanophthalmos 2
OMIM:609549
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
OMIM:618316
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
ORPHA:397715
Peters Plus Syndrome
ORPHA:709
Verloove Vanhorick-Brubakk Syndrome
ORPHA:3429
Dextrocardia With Unusual Facies And Microphthalmia
OMIM:221950
Hyperaldosteronism, Familial, Type I
OMIM:103900
Fraser Syndrome 1
OMIM:219000
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
ORPHA:468631
Mowat-Wilson Syndrome Due To Monosomy 2Q22
ORPHA:261537
Sifrim-Hitz-Weiss Syndrome
OMIM:617159
Fryns Microphthalmia Syndrome
OMIM:600776
Bleeding Disorder, Platelet-Type, 15
OMIM:615193
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
ORPHA:353277
Chromosome 1Q41-Q42 Deletion Syndrome
OMIM:612530
Congenital Disorder Of Glycosylation, Type Iit
OMIM:618885
Distal Monosomy 13Q
ORPHA:1590
Otofaciocervical Syndrome
ORPHA:2792
49,Xxxxy Syndrome
ORPHA:96264
Cerebellar-Facial-Dental Syndrome
ORPHA:444072
Aicardi Syndrome
ORPHA:50
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
OMIM:616975
Mowat-Wilson Syndrome
ORPHA:2152
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
ORPHA:3186
Baller-Gerold Syndrome
OMIM:218600
Congenital Rubella Syndrome
ORPHA:290
Hypermethioninemia Due To Adenosine Kinase Deficiency
OMIM:614300
Fetal Akinesia Deformation Sequence 1
OMIM:208150
Mandibulofacial Dysostosis, Guion-Almeida Type
OMIM:610536
Cardiospondylocarpofacial Syndrome
OMIM:157800
Turner Syndrome Due To Structural X Chromosome Anomalies
ORPHA:99413
Mosaic Monosomy X
ORPHA:99228
Monosomy X
ORPHA:99226
Turner Syndrome
ORPHA:881
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
ORPHA:71289
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
ORPHA:477817
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
OMIM:619227
Mosaic Trisomy 9
ORPHA:99776
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
ORPHA:3304
Cerebrocostomandibular Syndrome
ORPHA:1393
Distal Limb Deficiencies-Micrognathia Syndrome
ORPHA:1307
Monosomy 9P
ORPHA:261112
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
OMIM:601355
Microphthalmia, Syndromic 9
OMIM:601186
Gaucher Disease, Atypical, Due To Saposin C Deficiency
OMIM:610539
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
OMIM:106260
Restrictive Dermopathy
ORPHA:1662
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
ORPHA:544488
Multiple Pterygium Syndrome, Escobar Variant
OMIM:265000
Noonan Syndrome
ORPHA:648
Arnold-Chiari Malformation Type I
ORPHA:268882
Macrosomia With Microphthalmia, Lethal
OMIM:248110
Lipoid Congenital Adrenal Hyperplasia
OMIM:201710
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
OMIM:265380
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
ORPHA:353281
Blackfan-Diamond Anemia
ORPHA:124
Trisomy 13
ORPHA:3378
Catel-Manzke Syndrome
ORPHA:1388
Blomstrand Lethal Chondrodysplasia
ORPHA:50945
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
OMIM:616897
Distal Monosomy 15Q
ORPHA:1596
Pseudo-Von Willebrand Disease
OMIM:177820
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
ORPHA:480880
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
OMIM:612474
Eosinophilia, Familial
OMIM:131400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
ORPHA:77298
Esophageal Atresia
ORPHA:1199
Acrofacial Dysostosis Syndrome Of Rodriguez
OMIM:201170
Koolen-De Vries Syndrome
ORPHA:96169
Bleeding Disorder, Platelet-Type, 24
OMIM:619271
Nanophthalmos 4
OMIM:615972
Ctcf-Related Neurodevelopmental Disorder
ORPHA:363611
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
ORPHA:93267
Microcephaly-Micromelia Syndrome
OMIM:251230
Noonan Syndrome 2
OMIM:605275
Floating-Harbor Syndrome
ORPHA:2044
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
OMIM:602471
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
OMIM:166990
Mucopolysaccharidosis Type 2, Attenuated Form
ORPHA:217093
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
OMIM:617260
Lateral Meningocele Syndrome
OMIM:130720
Endocrine-Cerebroosteodysplasia
OMIM:612651
Silver-Russell Syndrome Due To A Point Mutation
ORPHA:397590
Microphthalmia, Isolated, With Cataract 1
OMIM:156850
Dilated Cardiomyopathy With Ataxia
ORPHA:66634
X-Linked Intellectual Disability, Nascimento Type
ORPHA:163956
Sea-Blue Histiocyte Disease
OMIM:269600
3C Syndrome
ORPHA:7
Microgastria-Limb Reduction Defect Syndrome
ORPHA:2538
Autosomal Dominant Spondylocostal Dysostosis
ORPHA:1797
Platelet Signal Processing Defect
OMIM:173590
Chromosome 22Q11.2 Deletion Syndrome, Distal
OMIM:611867
Diamond-Blackfan Anemia 1
OMIM:105650
Heart Defects-Limb Shortening Syndrome
ORPHA:1354
Holoprosencephaly 13, X-Linked
OMIM:301043
Noonan Syndrome 10
OMIM:616564
Familial Thyroid Dyshormonogenesis
ORPHA:95716
Microgastria-Limb Reduction Defects Association
OMIM:156810
Hypertelorism-Microtia-Facial Clefting Syndrome
ORPHA:2213
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
OMIM:608406
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
ORPHA:3236
Maternal Phenylketonuria
ORPHA:2209
Pfeiffer Syndrome Type 2
ORPHA:93259
Erythroleukemia, Familial, Susceptibility To
OMIM:133180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
OMIM:253800
Bilateral Perisylvian Polymicrogyria
ORPHA:98889
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
ORPHA:453499
Microphthalmia, Syndromic 2
OMIM:300166
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
OMIM:616335
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
OMIM:252270
Femoral-Facial Syndrome
OMIM:134780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
OMIM:606612
Simpson-Golabi-Behmel Syndrome
ORPHA:373
Focal Dermal Hypoplasia
ORPHA:2092
Retinitis Pigmentosa 42
OMIM:612943
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
OMIM:102700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
OMIM:615285
Cerebrofaciothoracic Dysplasia
ORPHA:1394
Diamond-Blackfan Anemia 11
OMIM:614900
Bartsocas-Papas Syndrome 1
OMIM:263650
Methylmalonic Aciduria And Homocystinuria, Cblj Type
OMIM:614857
Dyrk1A-Related Intellectual Disability Syndrome
ORPHA:464306
Cog1-Cdg
ORPHA:263508
Dk Phocomelia Syndrome
OMIM:223340
Frontonasal Dysplasia 1
OMIM:136760
Joubert Syndrome With Ocular Defect
ORPHA:220493
Carey-Fineman-Ziter Syndrome
OMIM:254940
Greenberg Dysplasia
OMIM:215140
Al Amyloidosis
ORPHA:85443
Orofaciodigital Syndrome Vi
OMIM:277170
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
OMIM:300232
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
ORPHA:536467
Hardikar Syndrome
OMIM:612726
Holoprosencephaly-Postaxial Polydactyly Syndrome
ORPHA:2166
Giant Cell Arteritis
ORPHA:397
Otopalatodigital Syndrome Type 2
ORPHA:90652
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
ORPHA:352665
Nager Syndrome
ORPHA:245
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
OMIM:618223
Crouzon Syndrome
OMIM:123500
Ring Chromosome 21 Syndrome
ORPHA:1445
Pallister-Killian Syndrome
OMIM:601803
Primary Ciliary Dyskinesia
ORPHA:244
Diamond-Blackfan Anemia 10
OMIM:613309
Cohen Syndrome
ORPHA:193
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
ORPHA:464311
Cortical Dysplasia, Complex, With Other Brain Malformations 6
OMIM:615771
Macrothrombocytopenia and progressive sensorineural deafness
OMIM:600208
Alagille Syndrome 1
OMIM:118450
Sebastian syndrome
OMIM:605249
Trisomy 20P
ORPHA:261318
Coffin-Lowry Syndrome
ORPHA:192
Basel-Vanagaite-Smirin-Yosef Syndrome
ORPHA:464738
Meckel Syndrome, Type 4
OMIM:611134
Mucopolysaccharidosis Type 2, Severe Form
ORPHA:217085
Acalvaria
ORPHA:945
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
ORPHA:457395
Floating-Harbor Syndrome
OMIM:136140
Peroxisome Biogenesis Disorder 1A (Zellweger)
OMIM:214100
Retinitis Pigmentosa 81
OMIM:617871
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
OMIM:602450
Agnathia-Otocephaly Complex
OMIM:202650
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
ORPHA:3268
Fraser Syndrome
ORPHA:2052
Distal Monosomy 17Q
ORPHA:1597
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
ORPHA:83617
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
OMIM:228940
16P13.11 Microduplication Syndrome
ORPHA:261243
Hadziselimovic Syndrome
OMIM:612946
Bor Syndrome
ORPHA:107
Schimmelpenning-Feuerstein-Mims Syndrome
OMIM:163200
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
ORPHA:1900
Thanatophoric Dysplasia
ORPHA:2655
Fibular Hemimelia
ORPHA:93323
Mitochondrial Complex I Deficiency, Nuclear Type 36
OMIM:619170
Tarp Syndrome
ORPHA:2886
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
OMIM:218000
Lacrimoauriculodentodigital Syndrome
ORPHA:2363
17Q11 Microdeletion Syndrome
ORPHA:97685
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
OMIM:245600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
ORPHA:2273
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
ORPHA:17
Fryns Syndrome
OMIM:229850
Congenital Amegakaryocytic Thrombocytopenia
ORPHA:3319
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
ORPHA:3004
Phace Syndrome
ORPHA:42775
Ear-Patella-Short Stature Syndrome
ORPHA:2554
Retinitis Pigmentosa 60
OMIM:613983
Joubert Syndrome With Renal Defect
ORPHA:220497
Cornelia De Lange Syndrome 1
OMIM:122470
Joubert Syndrome 1
OMIM:213300
Kniest Dysplasia
ORPHA:485
Schimke Immunoosseous Dysplasia
OMIM:242900
Orofaciodigital Syndrome Xiv
OMIM:615948
Frank-Ter Haar Syndrome
OMIM:249420
Stuve-Wiedemann Syndrome
OMIM:601559
Trisomy 8P
ORPHA:264450
Gm1 Gangliosidosis Type 1
ORPHA:79255
Hartsfield Syndrome
ORPHA:2117
Verheij Syndrome
OMIM:615583
Brachial Amelia, Cleft Lip, And Holoprosencephaly
OMIM:601357
X-Linked Mandibulofacial Dysostosis
ORPHA:1131
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
OMIM:300835
Bone Marrow Failure Syndrome 2
OMIM:615715
Branchiootorenal Syndrome 1
OMIM:113650
Spondylocostal Dysostosis 4, Autosomal Recessive
OMIM:613686
Cohen Syndrome
OMIM:216550
Brain-Lung-Thyroid Syndrome
ORPHA:209905
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
ORPHA:3047
Congenital Disorder Of Glycosylation, Type Iig
OMIM:611209
Transaldolase Deficiency
ORPHA:101028
Tarp Syndrome
OMIM:311900
Proximal 16P11.2 Microdeletion Syndrome
ORPHA:261197
Microphthalmia, Isolated, With Coloboma 6
OMIM:613703
Mucopolysaccharidosis, Type Vii
OMIM:253220
Holoprosencephaly, Recurrent Infections, And Monocytosis
OMIM:610680
Schwartz-Jampel Syndrome
ORPHA:800
Blau Syndrome
ORPHA:90340
Mucopolysaccharidosis Type 2
ORPHA:580
Peroxisome Biogenesis Disorder 12A (Zellweger)
OMIM:614886
Rajab Interstitial Lung Disease With Brain Calcifications 1
OMIM:613658
45,X/46,Xy Mixed Gonadal Dysgenesis
ORPHA:1772
Branchiogenic Deafness Syndrome
ORPHA:50815
Joubert Syndrome 36
OMIM:618763
Roch-Leri Mesosomatous Lipomatosis
ORPHA:529
Peroxisome Biogenesis Disorder 2A (Zellweger)
OMIM:214110
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
ORPHA:226313
Osteopathia Striata With Cranial Sclerosis
OMIM:300373
Noonan Syndrome 1
OMIM:163950
15Q11.2 Microdeletion Syndrome
ORPHA:261183
Spondylometaphyseal Dysplasia, Axial