Gene Summary

Name:
F-box protein 11
Synonyms:
Jf,  GENA 104

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
decreased heart weight Fbxo11Jf HET Early adult 4.38×10-06
abnormal locomotor activation Fbxo11Jf HET Early adult 8.09×10-08
short tibia Fbxo11tm2b(EUCOMM)Wtsi HET Early adult 1.88×10-05
increased total body fat amount Fbxo11Jf HET Early adult 9.58×10-18
decreased prepulse inhibition Fbxo11Jf HET Early adult 2.73×10-07
decreased lean body mass Fbxo11Jf HET Early adult 1.24×10-07
abnormal startle reflex Fbxo11Jf HET Early adult 6.68×10-12
hyperactivity Fbxo11tm2b(EUCOMM)Wtsi HET   Early adult 6.52×10-07
hyperactivity Fbxo11Jf HET Early adult 3.12×10-05
increased startle reflex Fbxo11Jf HET Early adult 7.55×10-27
increased red blood cell distribution width Fbxo11tm2b(EUCOMM)Wtsi HET Early adult 1.69×10-06
increased lean body mass Fbxo11Jf HET Early adult 2.71×10-06
decreased hematocrit Fbxo11tm2b(EUCOMM)Wtsi HET Early adult 3.18×10-08
increased bone mineral content Fbxo11Jf HET Early adult 8.82×10-07
decreased circulating calcium level Fbxo11tm2b(EUCOMM)Wtsi HET   Early adult 4.67×10-05
abnormal retina morphology Fbxo11Jf HET Early adult 9.64×10-05
decreased circulating triglyceride level Fbxo11Jf HET Early adult 7.24×10-05
decreased hemoglobin content Fbxo11tm2b(EUCOMM)Wtsi HET Early adult 2.28×10-11
preweaning lethality, complete penetrance Fbxo11tm2b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating total protein level Fbxo11tm2b(EUCOMM)Wtsi HET Early adult 1.01×10-05
increased fasting circulating glucose level Fbxo11tm2b(EUCOMM)Wtsi HET Early adult 3.71×10-05
abnormal defecation Fbxo11Jf HET Early adult 6.95×10-07
decreased circulating iron level Fbxo11tm2b(EUCOMM)Wtsi HET Early adult 1.23×10-06
decreased erythrocyte cell number Fbxo11tm2b(EUCOMM)Wtsi HET Early adult 8.53×10-11
abnormal vocalization Fbxo11Jf HET Early adult 8.78×10-05
thrombocytopenia Fbxo11Jf HET Early adult 6.97×10-08
abnormal bone mineralization Fbxo11Jf HET Early adult 8.65×10-05
decreased bone mineral density Fbxo11Jf HET Early adult 6.74×10-07
decreased mean corpuscular volume Fbxo11Jf HET Early adult 5.16×10-05

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
White adipose tissue  Wholemount images heterozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Oral epithelium 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
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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 Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Adult LacZ

LacZ Images Wholemount

27 Images

Echo

M-Mode Images

28 Images

MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

Embryo LacZ

LacZ images wholemount

8 Images

MicroCT E18.5

Embryo reconstruction

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Fbxo11 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 Fbxo11 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Cleft lip, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion, Long eyelashes... OMIM:618089

The table below shows human diseases predicted to be associated to Fbxo11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... ORPHA:3232
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Ankyloblepharon, Cleft palate, Cleft upper lip OMIM:106250
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... OMIM:616860
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Isolated Cleft Lip
Small for gestational age, Polyhydramnios, Abnormal Eustachian tube morphology, Conductive hearin... ORPHA:199302
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Ankyloblepharon, Cleft palate ORPHA:1074
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Syngnathia
Cleft palate OMIM:119550
Oculomaxillofacial Dysostosis
Median cleft lip, Abnormal eyelid morphology, Abnormal eyelash morphology, Abnormality of the den... ORPHA:1794
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Facial cleft, Upper eyelid coloboma, Cleft palate OMIM:613456
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Fryns Microphthalmia Syndrome
Macrotia, Abnormality of the ear, Facial cleft, Bilateral cleft lip and palate OMIM:600776
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Overfolded helix, Abnormal middle ear morphology, Abnormal antihelix morphology, L... ORPHA:79113
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Unilateral Ocular Duplication
Abnormal eyebrow morphology, Median cleft lip, Midline facial cleft, Cleft palate, Blepharophimosis ORPHA:3374
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Cerebrooculonasal Syndrome
Epicanthus, Sparse eyelashes, Sparse eyebrow, Facial cleft, Upslanted palpebral fissure, High pal... ORPHA:66625
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... OMIM:615631
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Megaepiphyseal Dwarfism
Epicanthus, Cleft palate OMIM:249230
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ... OMIM:619073
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, B lympho... OMIM:241600
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Underdeveloped nasal alae, Long nose, Congenital stapes ankylosis, Conductive h... OMIM:184460
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Anophthalmia Plus Syndrome
Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft lip and palate, Eyelid colobom... ORPHA:1104
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral synechia ORPHA:2016
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia ORPHA:1116
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia, Pedal edema OMIM:152800
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Areflexia of lower limbs, Elevated circulating creatine kinase concentration, Ankle... OMIM:615883
Parc Syndrome
Absent eyelashes, Absent eyebrow, Cleft palate OMIM:600331
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Polyhydramnios, Round ear ORPHA:1450
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Syndactyly, Anemia of inadequate production, Anisocytosis, Spl... OMIM:224120
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy... ORPHA:79445
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Telecanthus, Cleft upper lip, High, narrow palate, Facial cleft, Cleft palate, Eyelid coloboma OMIM:607597
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy... OMIM:612526
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Short nose, Anteverted nares ORPHA:2015
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Facial cleft, Cleft palate, Microtia, Atresia of the external auditory canal, Na... OMIM:239800
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Genu valgum, Hypocalcemia, Abnormal epiphysis morphology, Abnormal... ORPHA:53
Frontofacionasal Dysplasia
Telecanthus, Blepharophimosis, Non-midline cleft lip, Upper eyelid coloboma, Cleft palate, Facial... ORPHA:1791
Branchiootic Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the external auditory ... ORPHA:52429
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocytosis, Hypoprote... OMIM:226300
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short palm, Anemia OMIM:244460
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Anorexia ORPHA:2494
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal antihelix morphology, Abnorma... ORPHA:952
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Bowing of the legs, Hypocalcemia, Hypophosphatemia ORPHA:89937
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... ORPHA:90362
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Intermediate Osteopetrosis
Hepatosplenomegaly, Anemia, Hypocalcemia, Erlenmeyer flask deformity of the femurs, Thrombocytopenia ORPHA:210110
17Q21.31 Microduplication Syndrome
Abnormality of the outer ear, Short nose, Failure to thrive, Anteverted nares ORPHA:217340
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga OMIM:191420
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Facial cleft, Low-set ears OMIM:601357
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... OMIM:603553
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the middle ear, Atresia of the external auditory canal... ORPHA:3236
Maxillonasal Dysplasia, Binder Type
Large earlobe, Short nose, Short columella, Depressed nasal bridge OMIM:155050
Deafness, X-Linked 7
Posteriorly rotated ears, Wide nasal bridge, Atresia of the external auditory canal, Stenosis of ... OMIM:301018
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal OMIM:221320
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia ORPHA:75563
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Low-set ears ORPHA:46
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... ORPHA:93324
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly OMIM:603233
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... OMIM:609166
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia ORPHA:172
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Failure to thrive, Sensorineural hearing impairment OMIM:618379
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Decreased circulating antibody level, Agammaglobulinemia, Low-set ears, C... OMIM:616910
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Depressed nasal bridge, Anteverted nares, Abnormal Eustachian tube morphology, Recurrent otitis m... ORPHA:513456
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Aural Atresia, Congenital
Hyposmia, Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Intermittent diarrhea... OMIM:620270
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Otofaciocervical Syndrome
Depressed nasal bridge, Anteverted nares, Protruding ear, Abnormal antihelix morphology, Atresia ... ORPHA:2792
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... OMIM:600081
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Hypertelorism-Microtia-Facial Clefting Syndrome
Bifid nasal tip, Microtia, Atresia of the external auditory canal, Bifid nose, Conductive hearing... ORPHA:2213
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
2P21 Microdeletion Syndrome
Hypoglycemia, Hypocalcemia ORPHA:163693
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Femur fracture, Splenomegaly, Flared metaphysis, Coxa vara, Anemia, Hypocalcemia, T... OMIM:259700
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Lethal Osteosclerotic Bone Dysplasia
Posteriorly rotated ears, Anteverted nares, Depressed nasal ridge, Low-set ears, Short nose ORPHA:1832
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Macrotia, Depressed nasal bridge ORPHA:438178
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Pterygium Colli, Isolated
Short nose, Protruding ear OMIM:177990
Supernumerary Nostril
Facial cleft ORPHA:141096
Hypophosphatasia
Bowing of the long bones, Abnormal metaphysis morphology, Hypercalcemia, Anemia ORPHA:436
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intention... OMIM:610539
Bor Syndrome
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... ORPHA:107
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypoproteinemia, Anemia ORPHA:2315
Congenital Disorder Of Glycosylation, Type Ij
Clinodactyly of the 5th finger, Hypoproteinemia, Aggressive behavior, Micrognathia OMIM:608093
Acromelic Frontonasal Dysostosis
Telecanthus, Cleft upper lip, Midline facial cleft, Cleft palate, U-Shaped upper lip vermilion, D... OMIM:603671
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... OMIM:264700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
3Mc Syndrome 3
Highly arched eyebrow, Cleft upper lip, Facial cleft, Cleft palate, Blepharophimosis, Epicanthus ... OMIM:248340
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge, Convex nasal ridge ORPHA:1695
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia, Decreased body weight OMIM:613606
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... ORPHA:2549
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... OMIM:606069
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections... OMIM:614069
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Abn... ORPHA:949
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Ankyloblepharon, Lip pit ORPHA:1072
Acrocephalopolydactyly
Short nose, Microtia, Depressed nasal ridge ORPHA:221054
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Diarrhea, Athetosis, Leukopenia, Neutropenia, Fai... OMIM:229050
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Camptodactyly, Rocker bottom foot, Anisocytosis, Micrognathia OMIM:604273
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micrognathia, Splenomegaly, Postaxial hand polydactyly, Hypocalcemia, Hypoproteinemia OMIM:235255
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Hemochromatosis, Type 2B
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... OMIM:613313
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Micrognathia ORPHA:446
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Obesity, Large earlobe, Low-set ears, Short nose, Low h... OMIM:617752
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
17P13.3 Microduplication Syndrome
Low-set ears, Wide nose, Short nose ORPHA:217385
X-Linked Agammaglobulinemia
Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia ORPHA:47
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Elbow flexion contra... OMIM:619470
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Braddock-Carey Syndrome 2
Bulbous nose, Atresia of the external auditory canal, Hearing impairment OMIM:619981
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Sensorineural hearing impairment, ... ORPHA:1529
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Hypoproteinemia, ... OMIM:615895
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Hypercalcemia, Short 5th finger, Hypocalcemia, Hypoplasia of the capital f... ORPHA:557003
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Brachyd... OMIM:612462
Coxoauricular Syndrome
Microtia, Atresia of the external auditory canal, Hearing impairment ORPHA:1508
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Hearing impairment OMIM:302950
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia... ORPHA:167
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... OMIM:618774
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... ORPHA:848
Aceruloplasminemia
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... OMIM:604290
Pierpont Syndrome
Wide nose, Posteriorly rotated ears, Broad nasal tip, Large fleshy ears, Decreased body weight, S... OMIM:602342
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Anem... OMIM:127000
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Posteriorly rotated ears, Short nose, Anteverted nares, Low-set ears OMIM:618506
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:141400
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Short nose, Depressed nasal bridge ORPHA:261120
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Hypoglycemia, Sandal gap, Hypoplasia of the radius, Short... OMIM:607143
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Abnormality of the dentition, Carious teeth, Facial cleft, Tooth agenesis, Downs... ORPHA:1786
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Micrognathia, Splenomegaly, Postaxial hand polydactyly, Hepatosplenomegaly, Hypocalcemia, Hypopro... ORPHA:1655
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Congenital Analbuminemia
Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hyp... ORPHA:86816
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Ring Chromosome 10 Syndrome
Tapered finger, Sandal gap, Hypocalcemia, Micrognathia ORPHA:1438
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Slender long bone, Hypocalcemia, Hypoplastic spleen, Brachydactyly OMIM:602361
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Posteriorly rotated ears, Bulbous nose, Wide nasal bridge, Low-set ears, Recurr... OMIM:613604
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor... ORPHA:352540
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Microglossia, Den... OMIM:614669
Anencephaly 2
Median cleft lip, Short palpebral fissure, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Short nose ORPHA:2370
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Hand tremor, Gait ataxia, Gait disturbance, D... ORPHA:98764
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... ORPHA:158048
Abruzzo-Erickson Syndrome
Hearing impairment, Macrotia, Cleft palate, Protruding ear OMIM:302905
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Recurrent pneumonia, Protruding ear ORPHA:1495
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Weaver-Williams Syndrome
Protruding ear, Cleft palate, Narrow mouth ORPHA:3448
Johnson Neuroectodermal Syndrome
Choanal atresia, Bulbous nose, Anosmia, Protruding ear, Microtia, Atresia of the external auditor... ORPHA:2316
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pedal edema, H... ORPHA:247353
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Genu valgum, Hypocalcemia, Abnormal hip bone morphology, Hy... ORPHA:93160
Oculocerebrocutaneous Syndrome
Facial cleft, Orofacial cleft, Wide mouth, Eyelid coloboma, Ptosis ORPHA:1647
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Chung-Jansen Syndrome
Anteverted nares, Obesity, Large earlobe, Short nose, Macrotia OMIM:617991
X-Linked Intellectual Disability, Abidi Type
Hearing impairment, Non-midline cleft lip, Cleft palate, Protruding ear ORPHA:85273
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Atresia of the external auditory canal ORPHA:2010
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic s... OMIM:241410
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, De... ORPHA:289157
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the external audit... OMIM:612290
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Choreoathetosis, Cardiomyopath... ORPHA:79312
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sensorineural hearing impairm... OMIM:614744
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Splenomegaly, Dystonia, Loss of ambulation, Thrombocytopenia OMIM:615010
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Conductive hearing impairment, Velopharyngea... ORPHA:199306
Thomas Syndrome
Downslanted palpebral fissures, Cleft palate, Cleft upper lip ORPHA:3316
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Anorexia, Short rib... OMIM:241500
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... ORPHA:300298
Constricting Bands, Congenital
Eyelid coloboma, Facial cleft, Cleft palate, Cleft upper lip OMIM:217100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Ventricular septal defect, Ataxia, Situs inversus ... OMIM:249270
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Micrognathia, Splenomegaly, Leukocytosis, Flared meta... OMIM:259720
Adamantinoma
Hypercalcemia ORPHA:55881
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Microtia, Short nose, Hearing impairment ORPHA:1914
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Recurrent skin infections, Broad nasal tip, Overweight, Recurrent upper respiratory tract infecti... ORPHA:391372
Ichthyosis, Congenital, Autosomal Recessive 4B
Neonatal death, Death in infancy, Everted lower lip vermilion, Ectropion OMIM:242500
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Blephar... OMIM:601349
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Bronchiectasis, Increased circula... OMIM:242860
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular mo... OMIM:607616
Timothy Syndrome
Hypoglycemia, Hypocalcemia, Cutaneous syndactyly OMIM:601005
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Pseudohypoparathyroidism Type 1C
Calcinosis, Short metacarpal, Short fifth metatarsal, Short metatarsal, Polyphagia, Hyperphosphat... ORPHA:79444
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short nose, Failure to... OMIM:616420
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Anteverted nares, Wide nasal bridge, Low-set ears, Short nose OMIM:614701
Cartilage-Hair Hypoplasia
Short palm, Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx ... ORPHA:175
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:300946
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Malaria
Anemia, Retinopathy, Gait imbalance, Thrombocytopenia ORPHA:673
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Perlman Syndrome
Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Low-set ears, Thickened helices, S... ORPHA:2849
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Increased bone mineral density, Reticulocytosis, Recurrent fractures, Splenome... OMIM:611490
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... ORPHA:90041
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Highly arched eyebrow, Cleft lip, Cleft palate, Short philtrum, Evert... OMIM:616898
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hearing impairment, Cleft palate, Cleft upper lip OMIM:120433
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Depressed nasal bridge, Edema, Pericardial effusion, Low-set ears, Short nose,... OMIM:608776
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Atresia of the external auditory canal, Cond... ORPHA:1488
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Osteoporosis, Failure to thrive, Thrombocytopenia, Amelogenesis imperfecta OMIM:614727
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia ORPHA:329249
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Lo... OMIM:616430
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal dystrophy, Ventricular septal defect, Anorexia, Megaloblastic anemia, Diarrhea, Optic atr... ORPHA:49827
Treacher-Collins Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... ORPHA:861
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Anteverted nares, Short nose, Macrotia, Hearing impairment ORPHA:2701
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia OMIM:619302
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Low-set ears, Short nose, Failure to thrive ORPHA:1895
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Failure to thrive in infancy, Cardiomegaly, Diarrhea, Anemia... ORPHA:858
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys... ORPHA:94093
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Metaphyseal irregularity, Hypophosphatemia, Polydipsia, ... OMIM:239200
Slc35A2-Cdg
Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct... ORPHA:356961
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Thickened helices, Short nose, Hear... OMIM:618828
Mullegama-Klein-Martinez Syndrome
Depressed nasal bridge, Prominent nose, Bulbous nose, Sensorineural hearing impairment, Wide nasa... OMIM:301022
Intellectual Developmental Disorder, X-Linked 91
Short nose, Obesity OMIM:300577
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Iron deficiency anemia, Hypocalcemia, Type I diabetes mellitus, Thrombocytosis OMIM:212750
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio ORPHA:94086
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leukopenia, Neutr... OMIM:615285
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior OMIM:239500
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Hypocalcemia, Short femoral neck OMIM:618440
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Weiss-Kruszka Syndrome
Anteverted nares, Hearing impairment, Cupped ear, Overfolded helix, Protruding ear, Microtia, Low... OMIM:618619
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia OMIM:605899
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Dahlberg-Borer-Newcomer Syndrome
Brachydactyly, Hypocalcemia, Short distal phalanx of finger ORPHA:1563
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Dysmetria, Acute myelomonocytic leukemia, ... OMIM:159550
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Bartsocas-Papas Syndrome 1
Absent eyebrow, Anal stenosis, Ablepharon, Cleft upper lip, Cicatricial lagophthalmos, Absent eye... OMIM:263650
Intellectual Developmental Disorder, X-Linked 30