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Gene: Pign MGI:1351629

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Gene Summary

Name:
phosphatidylinositol glycan anchor biosynthesis, class N
Synonyms:
N/A

Order Alleles

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 System Allele Zyg Sex Life Stage P Value
enlarged testis Pignem1(IMPC)Mbp HET Early adult 0.00
abnormal vitreous body morphology Pignem1(IMPC)Mbp HET Early adult 3.43×10-08
preweaning lethality, complete penetrance Pignem1(IMPC)Mbp HOM   Early adult 0.00
small liver Pignem1(IMPC)Mbp HET Early adult 0.00
hyperactivity Pignem1(IMPC)Mbp HET Early adult 2.81×10-15
abnormal testis morphology Pignem1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Pignem1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Pignem1(IMPC)Mbp HET Early adult 0.00
abnormal liver morphology Pignem1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Pignem1(IMPC)Mbp HET Early adult 0.00
small kidney Pignem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Pignem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Pignem1(IMPC)Mbp HET Early adult 0.00

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lacZ Expression

Expression data not available

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 Dorso Ventral

46 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

1 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fryns Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Micrognathia, Microphthalmia, Ant... ORPHA:2059
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, Ureteral hypoplasia, Ureteral duplication, Hydronephrosis, Vesicoureteral reflux OMIM:614080
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydrocele testis, Right ventricular hypertrophy, Congenital megaureter, Hydroureter, Hydronephrosis ORPHA:280633

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Depressed nasal brid... OMIM:609637
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior... OMIM:611638
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Attention deficit hyperactivity disorder, Macroorch... ORPHA:3000
Acalvaria
Hydrocephalus, Calvarial skull defect, Spina bifida, Holoprosencephaly ORPHA:945
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Holoprosencephaly 3
Holoprosencephaly, Depressed nasal bridge, Abnormality of the nose, Short columella, Single naris... OMIM:142945
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Short fem... OMIM:601560
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Hydranencephaly, Holoprosencephaly OMIM:617967
Cerebrooculonasal Syndrome
Hydrocephalus, Craniosynostosis, Postaxial polydactyly, Optic nerve hypoplasia, Anophthalmia, Pos... OMIM:605627
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Hartsfield Syndrome
Intrauterine growth retardation, Craniosynostosis, Depressed nasal bridge, Aplasia/Hypoplasia of ... ORPHA:2117
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma OMIM:613703
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Holoprosencephaly, Amelia, Coloboma, Anterior encephalocele, Foot oligodactyly OMIM:601357
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Holoprosencephaly, Pyriform aperture stenosis, Anophthalmia, Col... OMIM:147250
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Thanatophoric Dysplasia Type 1
Wide anterior fontanel, Hydrocephalus, Short femur, Depressed nasal bridge, Femoral bowing, Hypop... ORPHA:1860
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma OMIM:251505
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Distal Monosomy 13Q
Aplasia/Hypoplasia affecting the eye, Holoprosencephaly, Anencephaly, Abnormal metacarpal morphol... ORPHA:1590
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Coloboma, Bifid distal phalanx of the thumb, Broad distal phalanx of the th... OMIM:120400
Holoprosencephaly 14
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Frontal bossing,... OMIM:619895
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Holoprosencephaly, Recurrent Infections, And Monocytosis
Short toe, Holoprosencephaly, Brachydactyly, Tapered finger, Brachycephaly, Short finger OMIM:610680
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Tapered finger, Holoprosencephaly OMIM:619033
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Semilobar holoprosencephaly, Lambdoidal craniosynostosis OMIM:601370
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Microphthalmia, Holoprosenceph... OMIM:157170
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Macroorchidism OMIM:300143
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia OMIM:233270
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus, Microphthalmia, Coloboma ORPHA:141333
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly, Coloboma OMIM:613094
Holoprosencephaly 7
Hydrocephalus, Alobar holoprosencephaly, Parietal bossing, Holoprosencephaly, Depressed nasal tip... OMIM:610828
Frontonasal Dysplasia 1
Broad nasal tip, Brachydactyly, Bifid nose, Coloboma, Postaxial hand polydactyly, Bifid nasal tip... OMIM:136760
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Depressed nasal bridge, Micromelia, Brachydactyly, Frontal boss... ORPHA:93274
47,Xyy Syndrome
Hyperactivity, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varicocele, Attention defic... ORPHA:8
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... OMIM:147891
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Congenital macroorchidism OMIM:300624
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Coloboma, Micr... ORPHA:1617
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Micrognathi... ORPHA:1908
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Depressed nasal bridge, 11 pairs of ribs, Short nose, Rhizomelia,... OMIM:108720
Proboscis Lateralis
Holoprosencephaly, Optic nerve hypoplasia, Anophthalmia, Optic disc coloboma, Iris coloboma, Choa... ORPHA:141099
Chromosome 3Q13.31 Deletion Syndrome
Dolichocephaly, Plagiocephaly, Brachycephaly, Alobar holoprosencephaly OMIM:615433
Joubert Syndrome 22
2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthal... OMIM:615665
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Plagiocephaly, Clinodactyly of the 5th finger, Hypoplastic verteb... ORPHA:2163
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Syndactyly, Coloboma, Iris coloboma, Clinodactyly, Microphthalmia OMIM:610023
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Micrognathia, Femoral bowing, Metaphyseal widening, Brachydactyly, Micromelia, Front... ORPHA:440354
Distal Monosomy 7Q36
Bulbous nose, Clinodactyly of the 5th finger, Holoprosencephaly, Micrognathia, Symphalangism affe... ORPHA:1636
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Hypoplasia of the brainstem OMIM:615771
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Adducted thumb, Holoprosencephaly, Micrognathia, Camptodactyly of finger, Hydranencephaly, Intrau... ORPHA:2570
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Micrognathia, Rocker bottom foot, Intrauterine growth retard... OMIM:616570
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Microphthalmia, Occipital encephalocele, Coloboma ORPHA:324416
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Macroorchidism ORPHA:3077
Partington Syndrome
Macroorchidism ORPHA:94083
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal... OMIM:300863
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Atelosteogenesis Type Ii
Broad phalanx, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbell-shaped fem... ORPHA:56304
Monosomy 18P
Holoprosencephaly, Micrognathia, Brachydactyly, Microphthalmia, Brachycephaly, Wide nasal bridge ORPHA:1598
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... ORPHA:882
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Fragile X Syndrome
Attention deficit hyperactivity disorder, Macroorchidism ORPHA:908
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Holoprosencephaly 1
Alobar holoprosencephaly, Aplasia of the nose, Ethmocephaly, Cyclopia, Microphthalmia, Midface re... OMIM:236100
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Hyperactivity, Macroorchidism ORPHA:85327
Steinfeld Syndrome
Holoprosencephaly, Retinal coloboma, Aplasia of the nose, Hypoplasia of the radius, Hypoplasia of... OMIM:184705
Triploidy
Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Holoprosencephaly, Micrognathia, Iris colobo... ORPHA:3376
Lujan-Fryns Syndrome
Attention deficit hyperactivity disorder, Macroorchidism ORPHA:776
Mental Retardation Syndrome, Belgian Type
Wide nose, Cleft ala nasi, Coloboma OMIM:249599
Chromosome 1Q41-Q42 Deletion Syndrome
Talipes equinovarus, Holoprosencephaly, Dolichocephaly, Broad nasal tip, Depressed nasal bridge, ... OMIM:612530
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... ORPHA:1988
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Convex nasal ridge, Dolichocephaly, Micrognathia, Brac... ORPHA:1777
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Abnormal femoral neck/head morphology, Slender finger, Anterior plagiocep... ORPHA:163649
Holoprosencephaly 4
Depressed nasal bridge, Depressed nasal tip, Absent nasal septal cartilage, Semilobar holoprosenc... OMIM:142946
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Attention deficit hyperactivity disorder, Macroorchidism ORPHA:284180
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Ring Chromosome 21 Syndrome
Small hand, Syndactyly, Clinodactyly, Holoprosencephaly ORPHA:1445
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Anophthalmia, 11 pairs of ribs, Iris coloboma, Microphthalmia ORPHA:77298
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Depressed nasal ridge, Micrognathia, Metaphyseal cupping of metacarpals, Frontal b... ORPHA:163966
Mccune-Albright Syndrome
Renal phosphate wasting, Renal tubular dysfunction, Precocious puberty, Pancreatitis, Elevated ci... ORPHA:562
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Adducted thumb, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Short ribs, Short femur, Micrognathia, Flared metaphysis, Adducted th... OMIM:616897
Polyembryoma
Abdominal mass, Macroorchidism, Isosexual precocious puberty, Abnormality of the peritoneum ORPHA:180229
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Broad nasal tip, Depressed nasal bridge, Frontal bossing, Underdeveloped nasal... ORPHA:250999
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Abnormality of the scrotum, Unilateral cryptorchidis... ORPHA:457083
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Ap... OMIM:615297
Jacobsen Syndrome
Intrauterine growth retardation, Hydrocephalus, Clinodactyly of the 5th finger, Holoprosencephaly... OMIM:147791
49,Xxxxy Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Depressed nasal ridge, Holoprosencephaly, De... ORPHA:96264
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Polydactyly, Coloboma OMIM:614465
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma OMIM:274270
Morm Syndrome
Hyperactivity, Retinal atrophy, Micropenis ORPHA:75858
Alobar Holoprosencephaly
Hydrocephalus, Depressed nasal ridge, Neural tube defect, Abnormal brainstem morphology, Cyclopia... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Depressed nasal ridge, Neural tube defect, Abnormal brainstem morphology, Cyclopia... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Depressed nasal ridge, Neural tube defect, Abnormal brainstem morphology, Cyclopia... ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Depressed nasal ridge, Neural tube defect, Abnormal brainstem morphology, Cyclopia... ORPHA:220386
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... OMIM:619135
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Holoprosencephaly 11
Holoprosencephaly OMIM:614226
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... OMIM:613313
Lambotte Syndrome
Intrauterine growth retardation, Preaxial foot polydactyly, Convex nasal ridge, Semilobar holopro... OMIM:245552
Meckel Syndrome 14
Microretrognathia, Holoprosencephaly, Postaxial polydactyly, Micrognathia, Decreased calvarial os... OMIM:619879
Intellectual Developmental Disorder, Autosomal Recessive 67
Pes planus, Coloboma OMIM:618295
Trisomy 18
Microretrognathia, Holoprosencephaly, Dolichocephaly, Abnormal hip bone morphology, Camptodactyly... ORPHA:3380
Monosomy 13Q14
Intrauterine growth retardation, Clinodactyly of the 5th finger, Microphthalmia, Finger syndactyl... ORPHA:1587
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Hypoplasia of the pons, Coloboma, Microphthalmia, Hypoplasia of the brainstem OMIM:613153
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Pierpont Syndrome
Short toe, Deep plantar creases, Prominent fingertip pads, Broad nasal tip, Short nose, Wide nose... OMIM:602342
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Microform Holoprosencephaly
Holoprosencephaly, Narrow nasal bridge, Short nose, Iris coloboma, Choanal atresia, Cyclopia, Ant... ORPHA:280200
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ulnar deviation of the hand, Holoprosencephaly, Postaxial polydactyly, Micrognathi... OMIM:612651
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Holoprosencephaly, Cyclopia, Mandibular aplasia, Absent nares ORPHA:990
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice OMIM:230350
Nanophthalmos 4
Microphthalmia OMIM:615972
Abruzzo-Erickson Syndrome
Short toe, Brachydactyly, Ulnar deviation of finger, Coloboma, Radioulnar synostosis, Iris colobo... ORPHA:921
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Brachydactyly, Short femoral neck,... OMIM:614701
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Radial club hand, Cyclopia, Holoprosencephaly ORPHA:2165
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Coloboma OMIM:120433
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Hypoplasia of the radius, Aplasia of the nose, Abnormality of the humerus, Hyp... ORPHA:3186
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Joubert Syndrome 14
Hydrocephalus, Postaxial polydactyly, Coloboma, Microphthalmia, Encephalocele, Prominent nasal br... OMIM:614424
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... OMIM:607143
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Anophthalmia, Chorioretinal coloboma OMIM:616428
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Chorioretinal coloboma, Coloboma OMIM:619111
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... OMIM:617394
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Micrognathia, Prominent nose, Microphthalmia OMIM:616171
Meckel Syndrome, Type 8
Talipes equinovarus, Depressed nasal ridge, Anophthalmia, Polydactyly, Postaxial hand polydactyly... OMIM:613885
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Pelviscapular Dysplasia
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... ORPHA:93333
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Pseudotrisomy 13 Syndrome
Hydrocephalus, 2-3 toe syndactyly, Holoprosencephaly, 11 pairs of ribs, Postaxial hand polydactyl... OMIM:264480
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Depressed nasal bridge, Micrognathia, Syndactyly, Prominent occiput, Coloboma, Mis... OMIM:220210
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Short toe, 2-3 toe syndactyly, Low hanging columella, Micrognathia, Cone-shaped epiphysis, Brachy... OMIM:618659
Craniotelencephalic Dysplasia
Hydrocephalus, Craniosynostosis, Arrhinencephaly, Frontal bossing, Septo-optic dysplasia, Microph... ORPHA:1528
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Abnormal calvaria morphology, Microphthalmia ORPHA:2432
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, 2-5 finger cutaneous syndactyly, Small hand, Micrognathia, Prominent occi... OMIM:619339
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Pallister-Hall Syndrome
Distal shortening of limbs, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Holoprosencep... OMIM:146510
Non-Functioning Pituitary Adenoma
Abnormality of the pituitary gland, Anemia of inadequate production, Adrenocorticotropic hormone ... ORPHA:91349
16P13.11 Microdeletion Syndrome
Talipes equinovarus, Holoprosencephaly, Depressed nasal bridge, Camptodactyly of finger, Metatars... ORPHA:261236
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Holoprosencephaly
Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Absent nares, Microphthalmia, Encephal... ORPHA:2162
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Frontal bossing, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long bone... ORPHA:93267
Microphthalmia With Limb Anomalies
Flared nostrils, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Depressed nasal bridge, C... OMIM:206920
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Functioning Gonadotropic Adenoma
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... ORPHA:91348
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the pons, Calf muscle pseudohypertrophy, Abn... ORPHA:370959
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Abruzzo-Erickson Syndrome
Radioulnar synostosis, Coloboma OMIM:302905
Cofs Syndrome
Abnormal nasal morphology, Micrognathia, Camptodactyly of finger, Talipes, Microphthalmia, Intrau... ORPHA:1466
Isolated Exencephaly
Depressed nasal bridge, Abnormal calvaria morphology, Hypoplasia of the frontal bone, Holoprosenc... ORPHA:563612
Trimethylaminuria
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly OMIM:602079
Microphthalmia, Syndromic 13
Microphthalmia, Coloboma OMIM:300915
Microtia-Anotia
Holoprosencephaly OMIM:600674
Treacher Collins Syndrome 2
Coloboma, Micrognathia, Choanal atresia, Choanal stenosis OMIM:613717
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Bulbous nose, Clinodactyly of the 5th finger, Holoprosencephaly, Dolichocephaly,... OMIM:613884
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Stevenson-Carey Syndrome
Prominent nasal tip, Coloboma, Camptodactyly, Microphthalmia, Anteverted nares, Brachycephaly, Hi... OMIM:611961
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... ORPHA:90790
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Atten... ORPHA:90674
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Bulbous nose, Plagiocephaly, Talipes equinovarus, Depressed nasal bridge, Coloboma, Frontal bossi... OMIM:616789
Cat-Eye Syndrome
Hip dysplasia, Iris coloboma, Microphthalmia, Intrauterine growth retardation, Chorioretinal colo... ORPHA:195
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos, Low hanging columella, Coloboma OMIM:619318
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Dolichocephaly, Depressed nasal bridge, Coloboma, Microphthalmia,... OMIM:167730
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... ORPHA:52901
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Depressed nasal bridge, Femoral b... OMIM:211350
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Hydrocephalus, Short toe, Holoprosencephaly, Short ribs, Bowing of the arm, A... OMIM:269860
Bresek Syndrome
Hydrocephalus, Plagiocephaly, Convex nasal ridge, Optic nerve hypoplasia, Postaxial hand polydact... ORPHA:85284
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Faciothoracogenital Syndrome
Anteverted nares, Micrognathia, Microphthalmia OMIM:227320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Abnormally large globe, Coloboma, Microphthalmia, Hypoplasia of the brainstem OMIM:615249
Pierpont Syndrome
Short toe, Prominent fingertip pads, Pes planus, Short finger, Microphthalmia, Brachycephaly, Wid... ORPHA:487825
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Atelosteogenesis Type I
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... ORPHA:1190
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Pelvis-Shoulder Dysplasia
Hydrocephalus, Absent proximal finger flexion creases, Talipes equinovarus, Micrognathia, Aplasia... ORPHA:2839
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites ORPHA:1046
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Agnathia-Otocephaly Complex
Micrognathia, Wide nose, Mandibular aplasia, Holoprosencephaly OMIM:202650
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... OMIM:214900
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Microphthalmia ORPHA:2528
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... OMIM:615559
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Moebius Syndrome
Talipes equinovarus, Depressed nasal bridge, Micrognathia, Brachydactyly, Short phalanx of finger... OMIM:157900
Meckel Syndrome, Type 4
Intrauterine growth retardation, Hydrocephalus, Microphthalmia, Anencephaly, Postaxial hand polyd... OMIM:611134
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Calvarial skull defect, Coronal craniosynostosis, Depressed nasal bridge, Bifid nose, Frontal bos... ORPHA:228390
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly OMIM:608540
Curry-Jones Syndrome
Craniosynostosis, Syndactyly, Duplication of thumb phalanx, Cutaneous syndactyly of toes, Colobom... OMIM:601707
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Macroorchidism ORPHA:324410
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Trisomy 20P
Hypospadias, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis, Cryptorchidism, Mac... ORPHA:261318
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Baraitser-Winter Syndrome 2
Microphthalmia, Trigonocephaly, Coloboma OMIM:614583
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Depressed nasal bridge, Syndactyly, Polydactyly, Microphthalmia OMIM:602501
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Abnormality of cartilage of external ear, Dolichocephaly, Depress... ORPHA:2399
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Frontal bossing, Micrognathia, Microphthalmia, Coloboma OMIM:617306
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hepatomegaly OMIM:615924
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Verheij Syndrome
Short 5th finger, Coloboma, Short nose, Clinodactyly, Hip dislocation, Wide nasal bridge OMIM:615583
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Micrognathia, Postaxial hand polydactyly, Cyclopia, Talipes, Um... ORPHA:2166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Paget Disease Of Bone 2, Early-Onset
Short femur, Femoral bowing, Fractures of the long bones, Bowing of the long bones, Brain stem co... OMIM:602080
Microphthalmia, Syndromic 12
Broad nasal tip, Micrognathia, Anophthalmia, Microphthalmia, Wide nasal bridge OMIM:615524
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
15Q24 Microdeletion Syndrome
Myelomeningocele, Abnormality of toe, Small hand, Depressed nasal bridge, Brachydactyly, Coloboma... ORPHA:94065
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Microphthalmia OMIM:610092
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia, Microphthalmia ORPHA:291
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Hypoplasia of the brainstem, Hydrocephalus, Dolichocephal... OMIM:608091
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Calf muscle hypertrophy, Microphthalmia, Encephalocele, Hypopla... OMIM:253800
2Q31.1 Microdeletion Syndrome
Bulbous nose, Optic disc coloboma, Tapered finger, Abnormality of fibula morphology, Sandal gap, ... ORPHA:251014
Acro-Renal-Ocular Syndrome
Radial club hand, Optic disc coloboma, Hypoplasia of the ulna, Sandal gap, Microphthalmia, Short ... ORPHA:959
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Macroorchidism OMIM:309520
Frontofacionasal Dysplasia
Depressed nasal ridge, Dimple on nasal tip, Depressed nasal bridge, Bifid nasal tip, Short nose, ... ORPHA:1791
Craniotelencephalic Dysplasia
Craniosynostosis, Optic nerve hypoplasia, Arrhinencephaly, Microphthalmia, Frontal encephalocele OMIM:218670
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Short femur, Micrognathia, Aplasia/hypoplasia involving bones of t... ORPHA:94068
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Prominent nose, Anophthalmia, Microphthalmia OMIM:221950
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Pes planus, Genu recurvatum, Bilateral microphthalmos OMIM:608763
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Aromatase Deficiency
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... ORPHA:91
Iniencephaly
Myelomeningocele, Hydrocephalus, Talipes equinovarus, Holoprosencephaly, Abnormal occipital bone ... ORPHA:63259
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Depressed nasal ridge, Short fourth metatarsal, Brachydactyly, Coloboma, Anteverted nares, Patell... ORPHA:464288
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Otodental Dysplasia
Anteverted nares, Coloboma OMIM:166750
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Hypoplastic ilia, Congenital hip dislocation, Sp... OMIM:169550
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the pons, Microphthalmia, Hypoplasia of the ... OMIM:615181
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Microretrognathia, Craniosynostosis, Abnormal occipital bone mor... ORPHA:468631
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:212550
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly OMIM:613490
Smith-Lemli-Opitz Syndrome
Ulnar deviation of finger, Rhizomelia, Intrauterine growth retardation, Micrognathia, Aplasia/Hyp... ORPHA:818
Congenital Disorder Of Glycosylation, Type Iq
Depressed nasal bridge, Brachycephaly, Microphthalmia, Coloboma OMIM:612379
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor... OMIM:611490
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice ORPHA:75234
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Pontocerebellar Hypoplasia, Type 11
Bulbous nose, Talipes equinovarus, Coloboma OMIM:617695
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft ala nasi, Congenital hip dislocation, Anophthalmia, Microphthalmia OMIM:164180
Treacher Collins Syndrome 3
Micrognathia, Coloboma OMIM:248390
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Depressed nasal ridge, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Brachyturric... OMIM:607597
Curry-Jones Syndrome
Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand polydactyly, Optic disc coloboma, I... ORPHA:1553
Microtia
Holoprosencephaly ORPHA:83463
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism OMIM:618874
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Abnormal renal physiology, Prostate cancer, Hepatosp... ORPHA:158057
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Asplenia, Pancreatic fibrosis, Hyperechogenic pancreas, Ma... OMIM:208540
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... OMIM:235200
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol... OMIM:618892
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... OMIM:278000
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Talipes equinovarus, Hypoplasia of the brainstem OMIM:617255
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... OMIM:613812
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... ORPHA:400
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Nanophthalmos
Microphthalmia ORPHA:35612
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Hydrocephalus, Microphthalmia OMIM:601794
Macrophthalmia, Colobomatous, With Microcornea
Coloboma OMIM:602499
Pancreatic Agenesis-Holoprosencephaly Syndrome
Holoprosencephaly, Prominent occiput, Aplasia/Hypoplasia of the phalanges of the thumb, Semilobar... ORPHA:556955
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Tibial bowing, Clinodactyly of the 5th finger, Convex nasal ridge, Slender finger, Talipes equino... ORPHA:251028
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Developmental Delay With Variable Neurologic And Brain Abnormalities
Micrognathia, Down-sloping shoulders, Camptodactyly, Wide nose, Knee flexion contracture, Microph... OMIM:619694
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Hartsfield Syndrome
Ectrodactyly, Craniosynostosis, Syndactyly, Wide nose, Hypoplasia of the frontal bone, Lobar holo... OMIM:615465
Cree Mental Retardation Syndrome
Micrognathia, Coloboma, Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cutaneous finger synd... OMIM:606851
Ring Chromosome 7 Syndrome
Severe intrauterine growth retardation, Plagiocephaly, Clinodactyly of the 5th finger, 3-4 toe sy... ORPHA:1449
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Marden-Walker Syndrome
Wide anterior fontanel, Talipes equinovarus, Arachnodactyly, Micrognathia, Radioulnar synostosis,... OMIM:248700
Cousin Syndrome
Dislocated radial head, Hydrocephalus, Clinodactyly of the 5th finger, Microphthalmia, Talipes eq... OMIM:260660
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Convex nasal ridge, Talipes equinovarus, Craniosynostosis, Micrognathia, Sho... OMIM:251230
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Prominent nasal bridge, Coloboma OMIM:618652
Warburg Micro Syndrome 1
Overlapping toe, Micrognathia, Microphthalmia, Anteverted nares, Wide nasal bridge OMIM:600118
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... OMIM:610333
Frontonasal Dysplasia 2
Calvarial skull defect, Depressed nasal ridge, Craniosynostosis, Parietal foramina, Depressed nas... OMIM:613451
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H... ORPHA:848
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Charge Syndrome
Clinodactyly of the 5th finger, Aqueductal stenosis, Holoprosencephaly, Depressed nasal bridge, A... ORPHA:138
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Babesiosis
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Renal insufficiency, T... ORPHA:108
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Short nose, Microphthalmia, T... OMIM:609945
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Cataract 9, Multiple Types
Iris coloboma, Microphthalmia OMIM:604219
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Femoral bowing, 11 pairs of ribs, Micromelia, Long foot, Intrauterine growth retardation, Absent ... OMIM:210710
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Cryptorchidism, Hyperactivity, Micropenis OMIM:618504
Orofaciodigital Syndrome Xiv
Microretrognathia, Holoprosencephaly, Retinal coloboma, Short ribs, Occipital encephalocele, Post... OMIM:615948
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Holoprosencephaly 9
Hydrocephalus, Holoprosencephaly, Depressed nasal bridge, Optic nerve hypoplasia, Anophthalmia, P... OMIM:610829
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Heart And Brain Malformation Syndrome
Wide anterior fontanel, Depressed nasal bridge, Camptodactyly of finger, Prominent occiput, Micro... OMIM:616920
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Retinal degeneration, Nephronophthisis, Splenomegaly, Hepat... OMIM:615630
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Congenital Toxoplasmosis
Hydrocephalus, Intrauterine growth retardation, Microphthalmia ORPHA:858
Frontofacionasal Dysplasia
Bifid nose, Short nose, Cranium bifidum occultum, Iris coloboma, Hypoplasia of the frontal bone, ... OMIM:229400
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Joubert Syndrome 23
Polydactyly, Coloboma OMIM:616490
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia, Microp... ORPHA:1135
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Microphthalmia, Metaphyseal widening, Frontal bossing, Abn... ORPHA:2788
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Baraitser-Winter Syndrome 1
Midface retrusion, Short nose, Iris coloboma, Microphthalmia, Anteverted nares, Duplication of ph... OMIM:243310
Joubert Syndrome 37
Postaxial polydactyly, Frontal bossing, Wide nose, Microphthalmia, Anteverted nares, Molar tooth ... OMIM:619185
Microphthalmia With Limb Anomalies
Hydrocephalus, Depressed nasal bridge, True anophthalmia, Sandal gap, Bowing of the long bones, M... ORPHA:1106
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Depressed nasal ridge, Holoprosencephaly, Micrognathia, Frontal b... ORPHA:1052
Ring Chromosome 10 Syndrome
Micrognathia, Tapered finger, Frontal bossing, Sandal gap, Microphthalmia, Intrauterine growth re... ORPHA:1438
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Frontal... ORPHA:2547
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Optic atrophy, Renal insufficiency, Neutropenia, Anemia... ORPHA:79312
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Xk Aprosencephaly Syndrome
Abnormality of the nares, Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bulbous nose, Clinodactyly of the 5th finger, Slender finger, Coloboma, Pes planus, Broad thumb, ... ORPHA:329224
Townes-Brocks Syndrome 1
Hydrocephalus, Umbilical hernia, 3-4 finger syndactyly, 1-2 toe syndactyly, Chorioretinal colobom... OMIM:107480
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pigmentary retin... OMIM:614866
Meckel Syndrome, Type 2
Anencephaly, Polydactyly, Postaxial hand polydactyly, Meningocele, Bowing of the long bones, Micr... OMIM:603194
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Coxa valga, Micrognathia, Deep longitudinal plantar crease, Camptodactyly, Promin... OMIM:214150
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear... OMIM:194380
Coach Syndrome 1
Occipital encephalocele, Coloboma, Postaxial hand polydactyly, Anteverted nares, Encephalocele, M... OMIM:216360
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Meckel Syndrome
Hydrocephalus, Depressed nasal ridge, Micrognathia, Anencephaly, Anophthalmia, Postaxial hand pol... ORPHA:564
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:1473
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Microphthalmia, Short... OMIM:607323
Intellectual Developmental Disorder, Autosomal Dominant 53
Posterior plagiocephaly, Brachycephaly, Genu valgum, Short femur OMIM:617798
Xeroderma Pigmentosum, Complementation Group G
Pes cavus, Microphthalmia OMIM:278780
Hydrolethalus
Hydrocephalus, Abnormality of the sense of smell, Micrognathia, Anencephaly, Arrhinencephaly, Ano... ORPHA:2189
Adams-Oliver Syndrome 6
Renal hypoplasia, Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Cerebrooculofacioskeletal Syndrome 2
Convex nasal ridge, Microphthalmia, Micrognathia, Camptodactyly of finger, Rocker bottom foot, La... OMIM:610756
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia OMIM:300635
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Bulbous nose, Talipes equinovarus, Clinodactyly of the 5th finger, Broad hallux ph... ORPHA:250989
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Martsolf Syndrome 1
Short toe, Talipes equinovarus, Short metacarpal, Slender ulna, Finger joint hypermobility, Broad... OMIM:212720
Autosomal Dominant Keratitis
Hypoplastic iris stroma, Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Macular hyp... ORPHA:2334
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
3P25.3 Microdeletion Syndrome
Overlapping toe, Postaxial polydactyly, Depressed nasal bridge, 2-3 finger syndactyly, Micrognath... ORPHA:435638
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Pallister-Hall Syndrome
Depressed nasal ridge, Short nose, Umbilical hernia, Microphthalmia, Scaphocephaly, Polydactyly a... ORPHA:672
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Intrauterine growth retardation, Small hand, Contracture of the proximal interphalangeal joint of... OMIM:301044
Arachnoid Cyst
Abnormal occipital bone morphology, Encephalocele, Hydrocephalus, Holoprosencephaly ORPHA:2356
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Cardiomegaly OMIM:252920
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Cold Agglutinin Disease
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Depressed nasal bridge, Micromelia, Hammertoe, Hip subluxation, Intrauterine growt... OMIM:270400
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Adducted thumb, Micrognathia, Flared metaphysis, Camptodactyly of finger,... OMIM:610758
Adams-Oliver Syndrome 2
Depressed nasal bridge, Bulbous nose, Micrognathia, Microphthalmia OMIM:614219
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Rere-Related Neurodevelopmental Syndrome
Micrognathia, Hip dysplasia, Frontal bossing, Iris coloboma, Choanal atresia, Microphthalmia, Ant... ORPHA:494344
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613489
Ornithine Transcarbamylase Deficiency
Hepatic failure, Aminoaciduria, Splenomegaly ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Meckel Syndrome, Type 5
Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Bowing of the long bones, Mi... OMIM:611561
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Micrognathia, Camptodactyly of finger, Intrauterine growth retardation, Microphthalmia ORPHA:48431
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... OMIM:607765
Oculofaciocardiodental Syndrome
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Flexion contracture of the 2nd toe, Flexion c... ORPHA:2712
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Broad hallux, Microphthalmia, Clinodactyly of the 5th finger, Micrognathia, Duplic... ORPHA:508498
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Short thumb, Microphthalmia OMIM:609054
Adams-Oliver Syndrome
Short distal phalanx of finger, Absent hand, Hydrocephalus, Calvarial skull defect, Brachydactyly... ORPHA:974
Immunodeficiency 54
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... OMIM:609981
Halperin-Birk Syndrome
Talipes equinovarus, Micrognathia, Umbilical hernia, Semilobar holoprosencephaly, Hip dislocation... OMIM:618651
Charge Syndrome
Down-sloping shoulders, Hypoplasia of the ulna, Umbilical hernia, Microphthalmia, Bilateral talip... OMIM:214800
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Bulbous nose, Depressed nasal bridge, Frontal bossing, Short nose, Microphthalmia OMIM:614105
Acrocallosal Syndrome
Wide anterior fontanel, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Pre... OMIM:200990
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Facial Clefting, Oblique, 1
Talipes calcaneovalgus, Coloboma OMIM:600251
Sandestig-Stefanova Syndrome
Trigonocephaly, Convex nasal ridge, Rocker bottom foot, Camptodactyly, Clinodactyly, Microphthalm... OMIM:618804
Trisomy 13
Ectrodactyly, Calvarial skull defect, Anophthalmia, Postaxial hand polydactyly, Iris coloboma, Mi... ORPHA:3378
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Srd5A3-Cdg
Palmoplantar keratoderma, Optic disc hypoplasia, Coloboma ORPHA:324737
Subaortic Stenosis--Short Stature Syndrome
Short toe, Small hand, Broad finger, Short phalanx of finger, Short nose, Short foot, Microphthal... OMIM:271960
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Micropenis,... OMIM:613673
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Postaxial polydactyly, Depressed nasal bridge, Abnormal nasal morphology, Mic... ORPHA:404440
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... OMIM:606003
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... OMIM:618641
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Mend Syndrome
Overlapping toe, Wide anterior fontanel, Hydrocephalus, Microphthalmia, 2-3 toe syndactyly, Hand ... ORPHA:401973
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Depresse... OMIM:617925
Carney Complex
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... ORPHA:1359
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Kapur-Toriello Syndrome
Bulbous nose, Clinodactyly of the 5th toe, Low hanging columella, Retinal coloboma, Camptodactyly... OMIM:244300
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Proteus Syndrome
Lymphangioma, Abnormality of retinal pigmentation, Ovarian neoplasm, Splenomegaly, Neoplasm of th... ORPHA:744
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Aplasia of the nose, Optic nerve hypoplasia, Micrognathia, Cyclopia, Se... OMIM:301043
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly OMIM:252900
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231000
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, Intrahepatic cholesta... OMIM:235555
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... OMIM:256550
Oculod