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Gene: Cenpj MGI:2684927

Gene Summary

Name:

centromere protein J

Synonyms:

4932437H03Rik, Sas4

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased body length	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal joint morphology	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.64×10^-14
decreased total body fat amount	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.24×10^-08
increased circulating potassium level	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.42×10^-07
abnormal tail morphology	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.79×10^-14
abnormal humerus morphology	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.32×10^-17
increased circulating bilirubin level	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.09×10^-05
abnormal tail movements	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.58×10^-09
vertebral fusion	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.23×10^-06
abnormal external male genitalia morphology	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.66×10^-15
decreased body weight	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.06×10^-24
abnormal head morphology	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.18×10^-14
abnormal external female genitalia morphology	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.16×10^-09
abnormal behavior	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.41×10^-16
abnormal ulna morphology	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.81×10^-09
abnormal vertebrae morphology	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.40×10^-08
abnormal tibia morphology	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.10×10^-15
abnormal cranium morphology	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.46×10^-11
decreased lean body mass	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.29×10^-17
decreased locomotor activity	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.65×10^-10
decreased bone mineral content	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.65×10^-15

Download data as: TSV XLS

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 3)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 3)
Bone	N/A	heterozygote	0.0% (0 of 3)
Brain	N/A	heterozygote	100% (3 of 3)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 3)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 3)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 3)
Gall bladder	N/A	heterozygote	0.0% (0 of 3)
Heart	N/A	heterozygote	0.0% (0 of 3)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	Ambiguous
Large intestine	N/A	heterozygote	0.0% (0 of 3)
Liver	N/A	heterozygote	0.0% (0 of 3)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 3)
Lung	N/A	heterozygote	0.0% (0 of 3)
Lymph node	N/A	heterozygote	0.0% (0 of 3)
Mammary gland	N/A	heterozygote	0.0% (0 of 3)
Esophagus	N/A	heterozygote	0.0% (0 of 3)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	0.0% (0 of 3)
Oviduct	N/A	heterozygote	0.0% (0 of 3)
Pancreas	N/A	heterozygote	0.0% (0 of 3)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 3)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 3)
Peyer's patch	N/A	heterozygote	0.0% (0 of 3)
Pituitary gland	N/A	heterozygote	0.0% (0 of 3)
Prostate gland	N/A	heterozygote	0.0% (0 of 3)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 3)
Skin	N/A	heterozygote	0.0% (0 of 3)
Small intestine	N/A	heterozygote	0.0% (0 of 3)
Spinal cord	N/A	heterozygote	66.67% (2 of 3)
Spleen	N/A	heterozygote	0.0% (0 of 3)
Stomach	N/A	heterozygote	0.0% (0 of 3)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	33.33% (1 of 3)
Thymus	N/A	heterozygote	0.0% (0 of 3)
Thyroid gland	N/A	heterozygote	0.0% (0 of 3)
Trachea	N/A	heterozygote	0.0% (0 of 3)
Uterus	N/A	heterozygote	0.0% (0 of 3)
White adipose tissue	N/A	heterozygote	0.0% (0 of 3)

No Embryo expression data was found for this gene.

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%
blood vessel
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%
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%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
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%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

18 Images

View images

Legacy Phenotype Associated Images

Cenpj^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
body, WT, Male, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
head, WT, Male, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
forearm, WT, Male, WTSI

View all 197 images

Cenpj^{tm1a(EUCOMM)Wtsi}
abnormal tail morphology, HOM, Male, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
reproductive organ, tail, HOM, Male, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
abnormal tail morphology, HOM, Female, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
abnormal tail morphology, HOM, Male, WTSI

View all 16 images

Cenpj^{tm1a(EUCOMM)Wtsi}
enlarged lateral ventricles, lateral ventricle, HOM, Male, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
lateral ventricle, enlarged lateral ventricles, HOM, Male, WTSI

View all 6 images

Cenpj^{tm1a(EUCOMM)Wtsi}
eye, abnormal retinal pigmentation, HET, Female, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
eye, corneal opacity, HOM, Male, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
eye, eyelids fail to open, HOM, Female, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
eye, cornea/lens fusion, corneal opacity, HOM, Male, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
eye, cornea/lens fusion, abnormal placement of pupils, corneal vascularization, corneal opacity, mydriasis, HOM, Female, WTSI

View all 6 images

Cenpj^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Cenpj^{tm1a(EUCOMM)Wtsi}
distorted hair follicle pattern, HOM, Female, WTSI

Human diseases caused by Cenpj mutations

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

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

Human diseases associated with Cenpj (4 diseases)
Human diseases predicted to be associated with Cenpj (1387 diseases)

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

Disease	Matching phenotypes	Source
Seckel Syndrome 4	11 pairs of ribs, Severe short stature, Microcephaly, Steep acetabular roof, Decreased body weigh...	OMIM:613676
Seckel Syndrome	Sandal gap, Short stature, Cachexia, Craniosynostosis, Microcephaly, Delayed skeletal maturation,...	ORPHA:808
Autosomal Recessive Primary Microcephaly	Short stature, Microcephaly, Upslanted palpebral fissure, Growth delay, Abnormal cortical bone mo...	ORPHA:2512
Microcephaly 6, Primary, Autosomal Recessive	Microcephaly	OMIM:608393

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

Disease	Matching phenotypes	Source
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia...	OMIM:620076
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol...	ORPHA:166011
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Short neck, Partial agenesis of the corpus callosum,...	OMIM:210710
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo...	OMIM:211350
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the...	ORPHA:1040
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Trisomy 13	Anophthalmia, Atrial septal defect, Intrauterine growth retardation, Iris coloboma, Bilateral sin...	ORPHA:3378
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,...	ORPHA:1263
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Epicanthus, Short stature, Microcephaly, Synophrys, Delayed skeletal maturatio...	ORPHA:3268
2Q24 Microdeletion Syndrome	Toe syndactyly, Small for gestational age, Camptodactyly of finger, Cataract, Short neck, Long fi...	ORPHA:1617
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del...	ORPHA:85198
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt...	OMIM:206920
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short st...	OMIM:616507
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Sclerocornea, Co...	OMIM:609465
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Abnormal m...	ORPHA:3104
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Short neck, Neutropenia, Atrial septal def...	OMIM:609053
Galloway-Mowat Syndrome 6	Epicanthus, Short stature, Decreased response to growth hormone stimulation test, Microcephaly, D...	OMIM:618347
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Camptodactyly of fi...	ORPHA:2633
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f...	ORPHA:175
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, A...	ORPHA:93323
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Rhegmatogenous retinal detachment, Abnormality ...	ORPHA:485
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Delayed skeletal maturation, Abnormal fibula morphology, Abnormal fo...	ORPHA:1837
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Ataxia, Cryptorchidism, Delayed skeletal maturation, Hypogonadism, Mic...	ORPHA:3363
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral densi...	ORPHA:2370
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte...	OMIM:256050
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin...	ORPHA:93307
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Epicanthus, Microcephaly, Optic atrophy, Upslanted palpebral fissure, Ir...	OMIM:620086
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Short neck, Obesity, Hypogonadism, Abnormal metacarpal morphology, A...	ORPHA:2233
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Small for gestational age, Upper limb phocomelia, Abnormal heart morphology, Abnormal...	ORPHA:294975
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Fanconi Anemia	Abnormal eyelid morphology, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, ...	ORPHA:84
Alg6-Cdg	Puberty and gonadal disorders, Rod-cone dystrophy, Decreased LDL cholesterol concentration, Short...	ORPHA:79320
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr...	ORPHA:370010
Mucopolysaccharidosis-Plus Syndrome	Short neck, Metaphyseal widening, Synophrys, Flexion contracture, Leukopenia, Chorioretinal hypop...	OMIM:617303
Xeroderma Pigmentosum, Complementation Group G	Cataract, Small for gestational age, Microcephaly, Defective DNA repair after ultraviolet radiati...	OMIM:278780
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Short stature, ...	ORPHA:319195
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H...	ORPHA:93315
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr...	OMIM:602111
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobi...	ORPHA:2741
Walker-Warburg Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Anophthalmia, Chorioretinal dysplasia, Microcornea,...	ORPHA:899
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the fibula...	ORPHA:2141
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Flexion contracture, Lateral ventricle...	OMIM:619479
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, ...	OMIM:617052
Alg12-Cdg	Proximal placement of thumb, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone ossification,...	ORPHA:79324
Edinburgh Malformation Syndrome	Failure to thrive, Neonatal hyperbilirubinemia, Accelerated skeletal maturation	OMIM:129850
Rajab Interstitial Lung Disease With Brain Calcifications 2	Decreased muscle mass, Hypertriglyceridemia, Arachnodactyly, Short stature, Microcephaly, Microcy...	OMIM:619013
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Proximal placement of...	ORPHA:139471
Congenital Disorder Of Glycosylation, Type Ih	Short neck, Decreased circulating T4 concentration, Cryptorchidism, Patent ductus arteriosus, Thr...	OMIM:608104
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Microcephaly, Abnormal thumb morphology, Thrombocytopenia, G...	OMIM:614082
Fanconi Anemia, Complementation Group C	Flexion contracture, Anterior wedging of T12, Reticulocytopenia, Neutropenia, Complete duplicatio...	OMIM:227645
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Femoral bowing, Reduced bone mineral density, Dislocated radial head, An...	OMIM:614856
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ...	ORPHA:337
Kbg Syndrome	Vertebral fusion, Telecanthus, Persistent open anterior fontanelle, Short stature, Single transve...	ORPHA:2332
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Aarskog-Scott Syndrome	Short palm, Finger syndactyly, Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Single ...	ORPHA:915
Fanconi Anemia, Complementation Group S	Chromosome breakage, Epicanthus, Short stature, Proximal placement of thumb, Microcephaly, Ovaria...	OMIM:617883
Microphthalmia, Syndromic 3	Anophthalmia, Anterior pituitary hypoplasia, Sclerocornea, Hemivertebrae, Micropenis, Agenesis of...	OMIM:206900
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Megalocornea...	OMIM:252500
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Congenital diaphragmatic hernia, Short neck, Abnormality of th...	ORPHA:2162
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Azoospermia, Gait disturbance, Sco...	ORPHA:1445
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida, Deviation of finger, Vertebral segmentation defect, Eyelid coloboma, ...	ORPHA:1104
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Scle...	ORPHA:77298
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Abnormal form of...	ORPHA:83468
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor...	OMIM:606612
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Severe short stature, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, E...	OMIM:609052
Trichothiodystrophy	Osteopenia, Joint dislocation, Multiple joint contractures, Partial agenesis of the corpus callos...	ORPHA:33364
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Rhizomelia, Anophthalmia, Sclerocornea, Hypospadias, Precocious puberty, 2-...	OMIM:615877
Galloway-Mowat Syndrome 1	Epicanthus, Cataract, Small for gestational age, Short stature, Microcephaly, Optic atrophy, Hypo...	OMIM:251300
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Micro...	OMIM:201000
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Microcephaly, Pericardial effus...	OMIM:613885
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Vertebral segmentation defect, Triphalangeal thumb, Chorioret...	ORPHA:959
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus	OMIM:618845
Acromesomelic Dysplasia 4	Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short metatarsal, Short phalanx o...	OMIM:619636
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis,...	ORPHA:2916
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b...	ORPHA:249
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Epicanthus, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, D...	ORPHA:2831
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Laterally curved ey...	OMIM:300166
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Gorlin Syndrome	Vertebral fusion, Epicanthus, Telecanthus, Arachnodactyly, Cataract, Hypogonadotropic hypogonadis...	ORPHA:377
Dysostosis Multiplex, Ain-Naz Type	Severe short stature, Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular r...	OMIM:619345
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Shallow orbits, Atrial septal defect, Spin...	OMIM:150250
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability, Optic disc hypoplasia, Hypergonadotropic hypogonadism, Aplas...	OMIM:300514
Verheij Syndrome	Joint laxity, Vertebral fusion, Branchial cyst, Small for gestational age, Optic nerve hypoplasia...	OMIM:615583
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Distal Deletion 6P	Atrial septal defect, Epicanthus, Posterior embryotoxon, Corneal opacity, Short foot, Hypoplasia ...	ORPHA:96125
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Koolen-De Vries Syndrome	Bicuspid aortic valve, Prominent fingertip pads, Atrial septal defect, Iris hypopigmentation, Ver...	OMIM:610443
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Idiopathic Congenital Hypothyroidism	Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Abnormal epiphy...	ORPHA:95717
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Small scrotum, Congenital ...	ORPHA:261344
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Orbital cyst, Ey...	OMIM:164180
Cockayne Syndrome Type 2	Anophthalmia, Kyphosis, Cryptorchidism, Flexion contracture, Uveitis, Developmental cataract, Mal...	ORPHA:90322
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Pericarditis, Microcephaly, Pericardial effusion, Osteoporosis, Chorioretinal a...	OMIM:619487
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Highly arched eyebrow, Postnatal growth retardatio...	OMIM:619135
Microphthalmia With Limb Anomalies	Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig...	ORPHA:1106
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Skel...	OMIM:616716
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor...	ORPHA:1328
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Kyp...	ORPHA:65759
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Inguinal hernia, Vertebral fusion, Elbow contracture, Tarsal synostosis, Cranios...	OMIM:178110
Charge Syndrome	Bifid scrotum, Anophthalmia, Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Abnormali...	ORPHA:138
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, Partial agenesis of the co...	OMIM:270400
Xeroderma Pigmentosum, Complementation Group F	Short stature, Microcephaly, Flexion contracture, Defective DNA repair after ultraviolet radiatio...	OMIM:278760
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Immunodeficiency 54	Chromosome breakage, Short stature, Microcephaly, Postnatal growth retardation, Splenomegaly, Adr...	OMIM:609981
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Increased susceptibility to spontaneous sister chromatid exchange, Short stature, Microcephaly, D...	OMIM:618097
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Madelung d...	OMIM:249700
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia, Osteopenia, Failure to thrive, Metaphyseal irregularity	OMIM:269920
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert...	OMIM:244600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi...	OMIM:607155
Fragile X Syndrome	Joint laxity, Macroorchidism, postpubertal, Mitral valve prolapse, Folate-dependent fragile site ...	OMIM:300624
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Single transverse palmar crease, Abnormal form of the vertebral bodies, Sh...	OMIM:194190
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o...	ORPHA:85167
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Short sta...	OMIM:139210
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ...	OMIM:312150
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Malaria	Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration	ORPHA:673
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae, Micropenis, D...	OMIM:268310
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Lig4 Syndrome	Epicanthus, Abnormality of chromosome stability, Telecanthus, Hypoplasia of penis, Pancytopenia, ...	ORPHA:99812
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, External genital hypoplasia, Small hand, Obesity, Narrow palm, Sho...	ORPHA:177910
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability, Pancytopenia, Microcephaly, Postnatal growth retardation, In...	OMIM:600546
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Smal...	OMIM:616229
Roifman Syndrome	Single transverse palmar crease, Irregular vertebral endplates, Clinodactyly of the 5th finger, S...	OMIM:616651
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th...	OMIM:250460
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia...	OMIM:164900
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Cataract, Rhizomelia,...	OMIM:222765
Diaphanospondylodysostosis	Narrow pelvis bone, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vert...	ORPHA:66637
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Roifman Syndrome	Delayed proximal femoral epiphyseal ossification, Clinodactyly of the 5th finger, Bilateral singl...	ORPHA:353298
Basal Cell Nevus Syndrome 1	Palmar pits, Hemivertebrae, Cardiac fibroma, Iris coloboma, Vertebral fusion, Spina bifida, Cardi...	OMIM:109400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Cutaneous finger syndactyly, Hypoalbuminemia, Hypoplastic ilia...	OMIM:235510
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short...	OMIM:600325
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Acrorenal Syndrome	Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Abnormal morphology of ulna	ORPHA:971
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:620010
Ataxia-Telangiectasia	Lymphopenia, Abnormality of chromosome stability, Diabetes mellitus, Short stature, Skeletal musc...	ORPHA:100
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, External genital hypoplasia, Decreased response to...	OMIM:214800
Cohen Syndrome	Abnormal eyelid morphology, Neutropenia, Clinodactyly of the 5th finger, Iris coloboma, Finger sy...	ORPHA:193
Fanconi Anemia, Complementation Group F	Atrial septal defect, Sacral dimple, Short stature, Decreased response to growth hormone stimulat...	OMIM:603467
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemi...	ORPHA:79327
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth ...	ORPHA:254531
Wolcott-Rallison Syndrome	Hyponatremia, Metaphyseal dysplasia, Short stature, Neonatal insulin-dependent diabetes mellitus,...	ORPHA:1667
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal shoulder morphology, Abnormality of the vertebra...	ORPHA:2345
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc...	OMIM:618000
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Spina bifida, Cryptorchidism, Hypoplasia of the radius, Hip ...	ORPHA:3412
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Iliac crest serration, Rhizomelia, H...	ORPHA:239
Hypomelanosis Of Ito	Syndactyly, Epicanthus, Cataract, Microcephaly, Kyphosis, Macrocephaly, Hand polydactyly, Radial ...	OMIM:300337
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ...	OMIM:253290
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Mesomelic leg shortening, ...	OMIM:249710
Koolen-De Vries Syndrome	Vertebral fusion, Epicanthus, Cataract, Arachnodactyly, Hypospadias, Short stature, Microcephaly,...	ORPHA:96169
Fanconi Anemia, Complementation Group O	Chromosome breakage, Short stature, External genital hypoplasia, Proximal placement of thumb, Abs...	OMIM:613390
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali...	ORPHA:2491
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypospadias, Rocker bottom foot, Cryptorchidism, Ra...	OMIM:617053
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B...	ORPHA:313892
20P13 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Failure to thrive in infancy, Highly arched eyebrow, Microcephaly...	ORPHA:313781
Immunodeficiency 27A	Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Weight loss, Hepatosplenomegaly, Salm...	OMIM:209950
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Bardet-Biedl Syndrome 5	Syndactyly, External genital hypoplasia, Obesity, Polydactyly, Hypogonadism, Macular dystrophy, M...	OMIM:615983
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemi...	OMIM:618805
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Single transverse palmar crease, Delayed skeletal maturation, Osteopor...	ORPHA:73272
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Iridodonesis, Epicanthus, Short stature, Tapered finger, Microcephaly, Kyphosis, Hypo...	ORPHA:2479
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Severe short stature, Highly arched eye...	ORPHA:2319
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Short neck, Abnormality of the...	ORPHA:3098
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Short stature, Short 3rd toe, Delayed skeletal maturation, Short 2nd toe, Short 5th finger, Short...	OMIM:619060
Fanconi Anemia, Complementation Group D2	Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Agenesis of corpus cal...	OMIM:227646
Temple Syndrome	Relative macrocephaly, Hypertriglyceridemia, Small for gestational age, Hypercholesterolemia, Sho...	OMIM:616222
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Abnormal form of the vertebral bod...	ORPHA:2839
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Micropenis, Hypogonadotropic hypogonadism, Short stature, Tapered finger, C...	OMIM:617159
Cornelia De Lange Syndrome 2	Ptosis, Short stature, Proximal placement of thumb, Highly arched eyebrow, Limited elbow movement...	OMIM:300590
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Corneal dystrophy...	ORPHA:1101
Cerebrooculonasal Syndrome	Encephalocele, Epicanthus, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Postaxial poly...	OMIM:605627
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Xfe Progeroid Syndrome	Severe short stature, Cachexia, Microcephaly, Optic atrophy, Defective DNA repair after ultraviol...	OMIM:610965
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Cockayne Syndrome Type 1	Cataract, Foot joint contracture, Anophthalmia, Postnatal growth retardation, Cryptorchidism, Opt...	ORPHA:90321
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Congenital diaphragmatic hernia, Osteopathia striata, S...	OMIM:305600
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Relative macrocephaly, Small for gestational age, Abnormal external genitalia, Delayed closure of...	ORPHA:231140
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hypocholester...	ORPHA:14
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short metaca...	OMIM:108720
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax...	ORPHA:93357
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Skeletal muscle atrophy, Optic disc hypop...	ORPHA:233
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Absent th...	OMIM:600901
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip...	OMIM:618395
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, Short stature, Microcephaly, Short thumb, T-cell acute lymphoblastic leuk...	OMIM:605724
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Congenital diaph...	ORPHA:2556
Otopalatodigital Syndrome Type 2	Omphalocele, Bowing of the long bones, Increased bone mineral density, Hypospadias, Camptodactyly...	ORPHA:90652
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Cardiomegaly, Obesity, Congenital hypothyroidism, Hypoalbuminemia	ORPHA:88643
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,...	OMIM:151210
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Atrial ...	OMIM:274000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxit...	ORPHA:508498
Oculoauricular Syndrome	Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,...	OMIM:612109
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating creatine kinase concentration, Leukopenia, Micropenis, Agenesis of corpus ca...	OMIM:301056
Osteogenesis Imperfecta, Type Xix	Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p...	OMIM:301014
Chromosome 3Pter-P25 Deletion Syndrome	Epicanthus, Prominent metopic ridge, Overlapping toe, Small for gestational age, Postaxial polyda...	OMIM:613792
Galloway-Mowat Syndrome 3	Epicanthus, Arachnodactyly, Short stature, Microcephaly, Hip dislocation, Hypoalbuminemia, Campto...	OMIM:617729
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Absent th...	OMIM:227650
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Terminal Osseous Dysplasia	Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Multiple joint contractures...	OMIM:300244
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, B...	OMIM:213980
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Short neck, Short palm, Clinodactyly of the 5th finger, Micropenis, Agenesis of corpus callosum, ...	OMIM:620073
Lamb-Shaffer Syndrome	Epicanthus, Mild postnatal growth retardation, Microcephaly, Decreased head circumference, Optic ...	ORPHA:530983
Wiedemann-Steiner Syndrome	Accelerated skeletal maturation, Synophrys, Clinodactyly of the 5th finger, Atrial septal defect,...	OMIM:605130
Chromosome 16Q22 Deletion Syndrome	Epicanthus, Prominent metopic ridge, Broad hallux, Small for gestational age, Highly arched eyebr...	OMIM:614541
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho...	OMIM:309620
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Flexion contracture, Leukopenia, Conjunctivitis, Thoracic kyphosis, Hypoalbuminemia, ...	ORPHA:505248
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Familial Thyroid Dyshormonogenesis	Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Abnormal epiphy...	ORPHA:95716
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypopla...	OMIM:615524
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist...	OMIM:305620
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Hypospadias, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys...	OMIM:615761
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Femoral-Facial Syndrome	Short femur, Short stature, Maternal diabetes, Cryptorchidism, Abnormal sacrum morphology, Long p...	ORPHA:1988
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Retinal detachment, Corneal opacity, Short stature...	ORPHA:2788
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Alagille Syndrome	Keratoconus, Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Corneal dys...	ORPHA:52
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:241530
Three M Syndrome 1	Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Spina ...	OMIM:273750
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Short stature, Elevated circulating C-reactive protein concentration, Increased cir...	OMIM:616050
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Epicanthus, Short stature, Osteolysis involving bones of the upper limbs, Flexion con...	ORPHA:88630
Temple Syndrome	Relative macrocephaly, Small for gestational age, Short stature, Decreased response to growth hor...	ORPHA:254516
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Bone pai...	ORPHA:93160
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy...	OMIM:264700
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Cryptorchidism, ...	ORPHA:1307
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se...	OMIM:607323
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Vertebral segmentati...	OMIM:611209
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Isolated Polycystic Liver Disease	Back pain, Increased total bilirubin	ORPHA:2924
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Prader-Willi Syndrome	Osteopenia, Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response...	OMIM:176270
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang...	OMIM:609616
Shox-Related Short Stature	Short neck, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergro...	ORPHA:314795
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Knee dislocation, S...	OMIM:615777
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Increased total bilirubin	OMIM:174050
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Microcephaly, Cryptorchidism, Hypoalbuminemia, Hypogonadism, ...	OMIM:617575
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Syndactyly, Small for gestational age, ...	OMIM:210900
Baraitser-Winter Syndrome 1	Epicanthus, Short stature, Bicuspid aortic valve, Highly arched eyebrow, Short neck, Microcephaly...	OMIM:243310
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Narrow greater ...	OMIM:253220
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
2Q31.1 Microdeletion Syndrome	Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of...	ORPHA:251014
Bardet-Biedl Syndrome 11	Hypogonadism, Retinopathy, Polydactyly, Obesity	OMIM:615988
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Cataract, Optic ner...	ORPHA:370959
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Pericarditis, Hypergonadotropic hypogonadism, Microcephaly, Almond-shaped palpebral f...	OMIM:212065
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
3C Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Short neck, Hemivertebrae, Abnormal tricuspid valve morp...	ORPHA:7
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Omodysplasia 2	Short humerus, Hypospadias, Cryptorchidism, Anterior wedging of T11, Uterus didelphys, Fibular hy...	OMIM:164745
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu...	OMIM:156550
Peroxisome Biogenesis Disorder 12A (Zellweger)	Delayed closure of the anterior fontanelle, Hyperbilirubinemia, Decreased body weight, Abnormalit...	OMIM:614886
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Highly arc...	OMIM:619451
Isolated Osteopoikilosis	Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ...	ORPHA:166119
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Short stature, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Abnormal rib morph...	ORPHA:2522
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Narrow greater sciatic notch, Hyp...	OMIM:608940
Multiple Epiphyseal Dysplasia Type 5	Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica...	ORPHA:93311
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossi...	OMIM:271640
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec...	OMIM:108721
Meckel Syndrome	Anophthalmia, Sclerocornea, Asplenia, Microcornea, Encephalocele, Accessory spleen, Abnormal chor...	ORPHA:564
Slc35A2-Cdg	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal long bone mo...	ORPHA:356961
Kbg Syndrome	Single transverse palmar crease, Short neck, Epispadias, Synophrys, Thoracic kyphosis, Short palm...	OMIM:148050
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Short neck, Bilateral cryptorchidism, Flexion contracture, Ankylobleph...	OMIM:263650
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Short thumb, Microphthalmia, Chromosomal breakage induced by crossl...	OMIM:609054
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,...	ORPHA:2298
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Hypospadias, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism,...	ORPHA:494344
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Codas Syndrome	Ptosis, Short metacarpal, Congenital hip dislocation, Epicanthus, Cataract, Short stature, Ventri...	ORPHA:1458
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Seckel Syndrome 4	11 pairs of ribs, Severe short stature, Microcephaly, Steep acetabular roof, Decreased body weigh...	OMIM:613676
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Os...	ORPHA:371428
Aicardi Syndrome	Proximal placement of thumb, Chorioretinal lacunae, Partial agenesis of the corpus callosum, Hemi...	OMIM:304050
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy...	OMIM:277440
Shashi-Pena Syndrome	Atrial septal defect, Short metacarpal, Epicanthus, Hypoglycemia, Highly arched eyebrow, Accelera...	OMIM:617190
Hepatic Veno-Occlusive Disease	Increased body weight, Increased total bilirubin	ORPHA:890
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ...	OMIM:617021
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
19P13.3 Microduplication Syndrome	Epicanthus, Telecanthus, Unilateral cryptorchidism, Ventricular septal defect, Kyphoscoliosis, Mi...	ORPHA:447980
Chondrodysplasia Punctata 2, X-Linked Dominant	Short neck, Elevated 8(9)-cholestenol, Hemivertebrae, Rhizomelia, Sparse eyebrow, Epiphyseal stip...	OMIM:302960
Hijazi-Reis Syndrome	Ankle clonus, Gait disturbance, Hyperbilirubinemia	OMIM:301094
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Telecanthus, Anophthalmia, Synophrys, Long eyelashes, Thick eyebrow	ORPHA:411986
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Micr...	OMIM:619055
Weill-Marchesani Syndrome 2	Broad skull, Short metatarsal, Shallow orbits, Broad ribs, Broad metacarpals, Short metacarpal, L...	OMIM:608328
Weill-Marchesani Syndrome 4	Iridodonesis, Short stature, Ectopia lentis, Joint stiffness, Shallow anterior chamber, Posterior...	OMIM:613195
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:122600
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Hypocalcemia, Short tibia, Micropenis, Patent foramen ovale, Rhizomelia, Hypospadi...	OMIM:607143
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	OMIM:242150
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Telecanthus, Severe short stature, Micromelia, Microcephaly, ...	ORPHA:1422
Smith-Magenis Syndrome	Retinal detachment, Toe syndactyly, Failure to thrive in infancy, Hypertriglyceridemia, Short sta...	ORPHA:819
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor...	ORPHA:1427
Bardet-Biedl Syndrome 10	Retinal dystrophy, Obesity, Hypogonadism, Polydactyly, Rod-cone dystrophy	OMIM:615987
Fanconi Anemia, Complementation Group R	Absent thumb, Microcephaly, Chromosomal breakage induced by crosslinking agents, Growth delay, An...	OMIM:617244
Diarrhea 13	Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia	OMIM:620357
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, A...	OMIM:600373
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Obesity, Polydactyly, Rod-cone dystrophy, Attenuation of...	OMIM:615990
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Decreased body weight, Decreased serum iron, Corneal erosion, Flexion co...	ORPHA:89842
Seckel Syndrome 1	Abnormal finger flexion crease, Single transverse palmar crease, Abnormally large globe, Clinodac...	OMIM:210600
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short neck, Clinodact...	OMIM:113620
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Marshall Syndrome	Retinal detachment, Epicanthus, Radial bowing, Cataract, Short stature, Coxa valga, Hypoplastic i...	OMIM:154780
14Q22Q23 Microdeletion Syndrome	Anophthalmia, Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Short palm, Clino...	ORPHA:264200
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Microcornea, Clinodactyly of the 5th finger, Finger syndac...	ORPHA:2710
Silver-Russell Syndrome	Decreased muscle mass, Abnormal appendicular skeleton morphology, Recurrent hypoglycemia, Clinoda...	ORPHA:813
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Microphthalmi...	OMIM:601552
Bardet-Biedl Syndrome 16	Short stature, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Rod-cone dystroph...	OMIM:615993
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Sh...	OMIM:602471
19P13.12 Microdeletion Syndrome	Short neck, Synophrys, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Hypothyr...	ORPHA:254346
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Accelerated skeletal maturation, Neonatal epiphyseal stippling...	OMIM:101800
Martsolf Syndrome 1	Thoracic scoliosis, Osteopathia striata, Finger joint hypermobility, Short palm, Micropenis, Shor...	OMIM:212720
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Penoscrotal hypospadias, Hypospadias, Female external genitalia in individual with ...	ORPHA:90791
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Lung abscess, Decreased circulating beta-2-microglobulin l...	OMIM:241600
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Short stature, Thoracolumbar scoliosis, Short neck, Microcephaly, Flexion contracture, Cardiomyop...	OMIM:616549
Cerebrooculonasal Syndrome	Epicanthus, Anophthalmia, Sparse eyelashes, Hypoplasia of penis, Sparse eyebrow, Postaxial hand p...	ORPHA:66625
Fanconi Anemia, Complementation Group L	Chromosome breakage, Hypoplastic sacrum, Absent thumb, Absent radius, Short neck, Upslanted palpe...	OMIM:614083
Analbuminemia	Patent ductus arteriosus, Osteoporosis, Elevated circulating transferrin concentration, Increased...	OMIM:616000
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi...	OMIM:304120
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Marden-Walker Syndrome	Decreased muscle mass, Short neck, Congenital contracture, Micropenis, Agenesis of corpus callosu...	OMIM:248700
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Cervical C2/C3 vertebral fusion, Microcephaly, Growth delay, Talipes equinovarus, ...	OMIM:617333
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Cataract, Spina bifida, Microcephaly, Preaxial polydactyly, Sc...	ORPHA:64754
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hemivertebrae, Femoral bowing, Micropenis, Decr...	OMIM:201750
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Missing ribs, Microceph...	ORPHA:50
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ...	OMIM:613849
Caudal Regression Syndrome	Joint stiffness, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum...	ORPHA:3027
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Elevated circula...	OMIM:167320
Warburg Micro Syndrome 3	Decreased muscle mass, Cataract, Small scrotum, Kyphoscoliosis, Blepharophimosis, Microcephaly, P...	OMIM:614222
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Short palm, Neonatal death, Patent foramen ovale, Short toe, Pate...	OMIM:269860
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Hypercholesterolemia, Short stature, Maturity-onset diabetes of the yo...	ORPHA:96184
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Relative macrocephaly, Precocious puberty, Postnatal growth retardation, Acromicria, Small hand, ...	ORPHA:254525
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Meta...	ORPHA:536471
Cenani-Lenz Syndrome	Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Hypothyroidism, Synostosis ...	ORPHA:3258
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Distal amyotrophy, Hypoalbuminemia, Scoliosis...	OMIM:208920
Neuhauser Syndrome	Osteopenia, Iridodonesis, Epicanthus, Arachnodactyly, Genu recurvatum, Short stature, Microcephal...	OMIM:249310
Autosomal Dominant Omodysplasia	Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Elbow dislocation, Cryptorchidism,...	ORPHA:93328
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Khan-Khan-Katsanis Syndrome	Neutropenia, Joint contracture, Patent foramen ovale, Short stature, Highly arched eyebrow, Corne...	OMIM:618460
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Multiple pterygia, Abnormal eyelid m...	ORPHA:2990
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Postnatal g...	OMIM:617093
Fanconi Anemia, Complementation Group N	Epicanthus, Aplastic anemia, Ventricular septal defect, Microcephaly, Short neck, Short thumb, Po...	OMIM:610832
Juvenile Polyposis Of Infancy	Refractory anemia, Short stature, Cachexia, Patent ductus arteriosus, Abnormal heart morphology, ...	ORPHA:79076
11Q22.2Q22.3 Microdeletion Syndrome	Ptosis, Epicanthus, Bilateral single transverse palmar creases, Small hand, Obesity, Short foot, ...	ORPHA:444002
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Chorioretinal dysplasia, Abnormal eyelid morphology, Abnormal optic nerve morpholog...	ORPHA:2526
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Distal amyotrophy, Distal lower limb muscle weakness, Hypoalbuminemia	ORPHA:94124
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost...	ORPHA:198
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Atrial septal defect, Hypoplastic cervical vertebrae, V...	ORPHA:79345
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Reduced bone mineral density, Sex reversal, Ambiguous genitalia, male, Increased circulating reni...	ORPHA:168558
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Short stature, Duplication of thumb phalanx, Facial palsy, ...	OMIM:616435
Satoyoshi Syndrome	Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Abnormality o...	ORPHA:3130
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Meier-Gorlin Syndrome 1	Genu recurvatum, Flat glenoid fossa, Flexion contracture, Hemivertebrae, Cutaneous finger syndact...	OMIM:224690
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r...	ORPHA:1836
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol...	OMIM:605814
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Atrial septal defect, Prominent metopic ridge, Arachnodactyly, Short stature, Posta...	OMIM:619721
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Femoral bowing, ...	ORPHA:289157
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Reduced bone mineral density, Sex reversal, Ambiguous genitalia, male, Increased circulating reni...	ORPHA:289548
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hypos...	OMIM:169400
Bachmann-Bupp Syndrome	Clinodactyly of the 5th finger, Cryptorchidism, Hyperbilirubinemia, Large for gestational age	OMIM:619075
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Agenesis of corpus callosum, A...	OMIM:218600
Trichohepatoenteric Syndrome 1	Small for gestational age, Hypospadias, Short stature, Increased mean platelet volume, Avascular ...	OMIM:222470
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Anophthalmia, Abnormality of the spleen, Abnormal finger morphol...	ORPHA:2538
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Microcephaly	OMIM:618349
Silver-Russell Syndrome 3	Relative macrocephaly, Syndactyly, Ambiguous genitalia, Small for gestational age, Elbow contract...	OMIM:616489
3Mc Syndrome 1	Conjunctival telangiectasia, Synophrys, Epicanthus inversus, Clinodactyly of the 5th finger, Atri...	OMIM:257920
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Short neck, Asplenia, Hemivertebrae, Finger clinodactyly, Bipari...	ORPHA:99776
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ...	ORPHA:1788
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Epicanthus, Small for gestational age, Cataract, Single transverse ...	OMIM:123450
Myhre Syndrome	External genital hypoplasia, Epispadias, Short palm, Large iliac wing, Abnormal penis morphology,...	ORPHA:2588
Saul-Wilson Syndrome	Enlarged epiphyses, Short metatarsal, Irregular vertebral endplates, Overtubulated long bones, Ne...	OMIM:618150
Thoracomelic Dysplasia	Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hype...	ORPHA:1803
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Epicanthus, Ventricular septal defect, Progressive macrocephaly, Polyda...	OMIM:602501
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Atrial septal defe...	ORPHA:2637
Proboscis Lateralis	Anophthalmia, External genital hypoplasia, Abnormal morphology of bony orbit of skull, Microcorne...	ORPHA:141099
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossific...	ORPHA:90674
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Short Syndrome	Joint laxity, Enlarged epiphyses, Telecanthus, Cataract, Small for gestational age, Rieger anomal...	OMIM:269880
Bardet-Biedl Syndrome 14	Rod-cone dystrophy, Polydactyly, Obesity	OMIM:615991
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia	OMIM:607250
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:614652
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Small scrotum, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Joint lax...	OMIM:613658
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Epicanthus, Overfriendliness, Short stature, Ventricular septal defect, Abnormality o...	ORPHA:369891
Primary Membranoproliferative Glomerulonephritis	Drusen, Hypoalbuminemia	ORPHA:54370
Jacobsen Syndrome	Short neck, Flexion contracture, Microcornea, Eyelid coloboma, Clitoral hypoplasia, Chorioretinal...	OMIM:147791
Mesomelia-Synostoses Syndrome	Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of the 5th finger,...	ORPHA:2496
Moebius Syndrome	Short neck, Congenital fibrosis of extraocular muscles, Lower limb undergrowth, Micropenis, Short...	OMIM:157900
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level, Failu...	ORPHA:556037
Fanconi Anemia, Complementation Group P	Pancytopenia, Short stature, Absent thumb, Microcephaly, Short thumb, Chromosomal breakage induce...	OMIM:613951
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
N Syndrome	Cryptorchidism, Abnormality of chromosome stability, Hypospadias, Leukemia	OMIM:310465
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Alport Syndrome	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Macular degeneration, Re...	ORPHA:63
1Q21.1 Microdeletion Syndrome	Clinodactyly of the 5th finger, Agenesis of corpus callosum, Iris coloboma, Broad hallux phalanx,...	ORPHA:250989
Microphthalmia, Syndromic 6	Anophthalmia, Small scrotum, Single transverse palmar crease, Sclerocornea, Adrenal hypoplasia, M...	OMIM:607932
Microphthalmia, Syndromic 9	Anophthalmia, Congenital diaphragmatic hernia, Atrial septal defect, Diaphragmatic eventration, N...	OMIM:601186
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:98754
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Nijmegen Breakage Syndrome-Like Disorder	Growth delay, Chromosomal breakage induced by ionizing radiation, Short stature, Microcephaly	OMIM:613078
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Overlapping fingers, Overlapping toe, Hypoplastic right heart, Postaxial po...	OMIM:618142
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Catara...	OMIM:615986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating creatine kinase concentration, Flexion contracture, Optic atrophy, Developme...	OMIM:613154
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
48,Xxxy Syndrome	Hypoplasia of penis, Small scrotum, Short neck, Clinodactyly of the 5th finger, Abnormal social b...	ORPHA:96263
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-homocystein...	OMIM:614300
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Abnormal pupil morphology, Flexion contractur...	OMIM:160565
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Premature pubarche, Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endpla...	OMIM:612847
Phaver Syndrome	Broad hallux phalanx, Epicanthus, Ventricular septal defect, Camptodactyly of finger, Joint stiff...	ORPHA:2876
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level, Failu...	ORPHA:556030
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Short stature, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Cl...	OMIM:610023
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac...	OMIM:610967
Mend Syndrome	Elevated 8(9)-cholestenol, Abnormal social behavior, Broad hallux, Short stature, Wide anterior f...	ORPHA:401973
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Short stature, Delayed skelet...	OMIM:617927
Oculomaxillofacial Dysostosis	Brachydactyly, Corneal opacity, Camptodactyly of finger, Short stature, Abnormal eyelid morpholog...	ORPHA:1794
Graft Versus Host Disease	Fasciitis, Dupuytren contracture, Lipodystrophy, Limited elbow movement, Limited shoulder movemen...	ORPHA:39812
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:98793
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Epicanthus, Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Postaxial p...	OMIM:617866
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypok...	OMIM:227810
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Microphthalmia, Syndromic 5	Joint laxity, Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Short ...	OMIM:610125
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Lateral Meningocele Syndrome	Vertebral fusion, Inguinal hernia, Short neck, Cryptorchidism, Kyphosis, Sclerosis of skull base,...	OMIM:130720
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr...	OMIM:602080
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r...	OMIM:313400
Short Syndrome	Telecanthus, Posterior embryotoxon, Corneal opacity, Severe short stature, Diabetes mellitus, Abn...	ORPHA:3163
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Sclerocornea, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexio...	OMIM:600920
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Harrod Syndrome	Cataract, Arachnodactyly, Hypospadias, Microcephaly, Kyphosis, Cryptorchidism, Abnormal shoulder ...	ORPHA:2115
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:177904
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Disp...	OMIM:619131
Microphthalmia, Lenz Type	Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, Short stature, Hyperlordosis, ...	ORPHA:568
Birk-Landau-Perez Syndrome	Camptocormia, Failure to thrive in infancy, Hyperkalemia, Limb ataxia, Choreoathetosis, Difficult...	OMIM:617595
Nephrotic Syndrome, Type 11	Arachnodactyly, Ventricular septal defect, Partial duplication of thumb phalanx, Dilated cardiomy...	OMIM:616730
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Inverted Duplicated Chromosome 15 Syndrome	Epicanthus, Ventricular septal defect, Microcephaly, Precocious puberty, Cryptorchidism, Synophry...	ORPHA:3306
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:177901
Joubert Syndrome 10	Epicanthus, Postaxial polydactyly, Growth delay, Macrocephaly, Rod-cone dystrophy, Downslanted pa...	OMIM:300804
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Microcephaly, Overweight, Bila...	OMIM:617796
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Sclerocornea, Congenital diaphragmatic hernia, Abnormal form of the vert...	ORPHA:280
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho...	OMIM:112350
Simpson-Golabi-Behmel Syndrome	Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Acc...	ORPHA:373
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia, Abnormality of the vertebral column, Neural tube defect	OMIM:600776
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Relative mac...	OMIM:239000
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo...	ORPHA:2311
Transcobalamin Deficiency	Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia	ORPHA:859
Prader-Willi Syndrome Due To Translocation	External genital hypoplasia, Decreased response to growth hormone stimulation test, Short neck, A...	ORPHA:177907
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo...	ORPHA:507
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Cataract, Cachexia,...	ORPHA:217346
Monosomy 9Q22.3	Epicanthus, Cataract, Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age, Short neck, A...	ORPHA:77301
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Short stature, Patchy osteosclerosis, M...	ORPHA:2323
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability, Microcephaly	OMIM:620153
Wolfram-Like Syndrome	Diabetes mellitus, Optic atrophy, Severe postnatal growth retardation, Glucose intolerance, Prima...	ORPHA:411590
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypothyroidism, Clubbing, Growth delay, Iron deficiency anemia, Clubbing of fingers, Hypoalbumine...	OMIM:226300
Blount Disease	Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the...	ORPHA:2768
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Hyponatremia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaph...	OMIM:201810
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular sept...	OMIM:614815
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Aredyld Syndrome	Craniofacial hyperostosis, Short stature, Cachexia, Splenomegaly, Upslanted palpebral fissure, Ab...	ORPHA:1133
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Clinod...	ORPHA:235
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Epicanthus, Hypospadias, Microcephaly, Cryptorchidism, Polydactyly, Intrauterine growth retardati...	OMIM:616910
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormo...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormo...	ORPHA:363958
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Abnormal heart morphology, Verteb...	ORPHA:531151
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentratio...	ORPHA:79303
Cystic Echinococcosis	Abnormality of the testis size, Bone cyst, Weight loss, Ovarian cyst, Abnormality of the vertebra...	ORPHA:400
Robinow Syndrome	Small scrotum, External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Webbed penis, Mic...	ORPHA:97360
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Small for gestational age, Hypospadias, Single transverse pa...	OMIM:614866
Cantú Syndrome	Short neck, Accelerated skeletal maturation, Cardiomegaly, Broad ribs, Finger syndactyly, Broad h...	ORPHA:1517
Pierson Syndrome	Retinal vascular tortuosity, Skeletal muscle atrophy, Rieger anomaly, Cataract, Hypoplasia of the...	OMIM:609049
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Abnormal muscle glycogen co...	ORPHA:367
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Wilson Disease	Hypoparathyroidism, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouric...	OMIM:277900
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158057
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Malformed lacrimal duct, Cutaneous finger syndacty...	OMIM:219000
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration...	OMIM:620366
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Broad ribs, Broad metacarpals, Tapered finger, Hyperlordosis, Precocious puberty, Obes...	OMIM:301066
Hydrolethalus	Anophthalmia, Micromelia, Cryptorchidism, Postaxial hand polydactyly, Anencephaly, Abnormal fallo...	ORPHA:2189
Fanconi Anemia, Complementation Group U	Chromosome breakage, Absent thumb, Absent radius, Microcephaly, Patent ductus arteriosus, Hypopla...	OMIM:617247
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Microcephaly, Postnatal growth retardation, D...	ORPHA:93324
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Chorioretinal hypopigmentation, Clitoral ...	ORPHA:398079
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Splenomegaly, Abnormal ri...	ORPHA:3035
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Large for gestational age, Hemivertebrae, Gonadotropin deficie...	ORPHA:672
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Short neck, Hemivertebra...	OMIM:613686
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Precocious puberty, Cryptorchidism, Hyperkalemia, Failure to thrive	OMIM:614736
Bardet-Biedl Syndrome 4	Syndactyly, External genital hypoplasia, Cryptorchidism, Obesity, Polydactyly, Hypogonadism, Rod-...	OMIM:615982
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300554
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Metaphyseal widening, Tibial bowing, Iris atrophy, Short stature, Osteoporosis, Incre...	OMIM:259770
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Premature thelarche, Bilateral cryptorchidism, Flexion contractu...	OMIM:180849
Holt-Oram Syndrome	Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventricular canal defect, Finger synd...	ORPHA:392
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra...	OMIM:611717
Triploidy	Finger syndactyly, Hypoplasia of penis, Cataract, Hypospadias, Short neck, Cryptorchidism, Mening...	ORPHA:3376
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Tapered toe, Elevated circulating creatine kinase concentration, Tapered finger, Long f...	OMIM:608836
Bardet-Biedl Syndrome 22	Microcephaly, Large for gestational age, Obesity, Postaxial foot polydactyly, Macular hypopigment...	OMIM:617119
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Chorioretinal hyperpigmentation, Optic atrophy, Secondary microcephaly, Hypoalbumin...	OMIM:618329
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Patellar hypoplasia, Short phalanx of finger, Genu varum, Calcinos...	ORPHA:221016
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck	OMIM:214300
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Hand polydactyly, Ab...	ORPHA:2167
Trisomy 9P	Sacral dimple, Bilateral single transverse palmar creases, Short neck, Microcephaly, Kyphosis, Ab...	ORPHA:236
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Impaired glucose tolerance, Long eyebrows, Tapered finger, Microcephaly, Long fingers, Growth del...	OMIM:614407
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Absent external genitalia, Short neck, Hemive...	OMIM:271520
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Severe short stature, Joint stiffness, Microcephaly, Kyphosis, Abnormality of ...	ORPHA:1005
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia, Sclerocornea, Ankyloblepharon	OMIM:611038
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Short stature, Short neck, Short middle phalanx of the 2nd finger, Parti...	OMIM:617926
De Sanctis-Cacchione Syndrome	Entropion, Severe short stature, Microcephaly, Keratitis, Bilateral cryptorchidism, Optic atrophy...	OMIM:278800
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Microcornea, Chorioretinal ...	OMIM:309800
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b...	ORPHA:2878
Familial Congenital Mirror Movements	Fused cervical vertebrae, Hypogonadotropic hypogonadism	ORPHA:238722
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Microcornea, Eyelid coloboma, Agenesis of corp...	ORPHA:2308
Fragile X Syndrome	Joint laxity, Mitral valve prolapse, Folate-dependent fragile site at Xq28, Macrocephaly, Macroor...	ORPHA:908
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi...	OMIM:220210
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Ptosis, Short stature, Camptodactyly of finger, Hyperlordosis, Joint stiffness...	ORPHA:1323
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Neutropenia, Short palm, Neonatal short-limb sho...	OMIM:250250
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Mycetoma	Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Bone cyst, Osteoporos...	ORPHA:2583
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Ritscher-Schinzel Syndrome 2	Relative macrocephaly, Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodac...	OMIM:300963
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Inguinal hernia, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Crypt...	OMIM:227330
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2...	OMIM:612394
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Hip dysplasia, Failure to thrive	OMIM:613404
Primary Intestinal Lymphangiectasia	Pericardial effusion, Weight loss, Growth delay, Reduced proportion of CD4+ effector memory T cel...	ORPHA:90362
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Fg Syndrome Type 1	Single transverse palmar crease, Generalized joint laxity, Atrial septal defect, Abnormal social ...	ORPHA:93932
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Overlapping toe, Sparse eyelashes, Hypospadias, Blepharophimosis, Sparse eyebrow, ...	OMIM:613026
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
3Mc Syndrome	Bilateral cryptorchidism, Abnormal anterior chamber morphology, Spina bifida occulta, Limited pro...	ORPHA:293843
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weigh...	ORPHA:398069
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor...	OMIM:221900
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi...	ORPHA:280921
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Microcephaly, Splenomegaly, H...	OMIM:251880
Bardet-Biedl Syndrome 7	Postaxial polydactyly, Obesity, 2-3 toe syndactyly, Polydactyly, Hypogonadism, Clinodactyly, Rod-...	OMIM:615984
Icf Syndrome	Epicanthus, Abnormality of chromosome stability, Short stature, Abnormality of neutrophils, Macro...	ORPHA:2268
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur...	ORPHA:3103
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh...	ORPHA:3003
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Inguinal hernia, Short metacarpal, Radial bowing, Wormian bones, Femora...	OMIM:610915
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Flexion contracture, Humeroradial synostosis, F...	OMIM:207410
De Barsy Syndrome	Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Coxa var...	ORPHA:2962
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia...	ORPHA:37042
Chops Syndrome	Cataract, Short stature, Ventricular septal defect, Microcephaly, Cryptorchidism, Synophrys, Pate...	OMIM:616368
Lathosterolosis	Toe syndactyly, Lumbosacral meningocele, Postaxial hand polydactyly, Osteoporosis, Postaxial foot...	OMIM:607330
Floating-Harbor Syndrome	Enlarged joints, Short neck, Humeral pseudarthrosis, Atrial septal defect, Abnormal anterior cham...	ORPHA:2044
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydac...	OMIM:615996
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia, Osteopenia, Failure to thrive, Rickets	OMIM:211600
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c...	OMIM:305400
Dubowitz Syndrome	Aplastic anemia, Single transverse palmar crease, Hypoplasia of the iris, Hypocholesterolemia, Cl...	OMIM:223370
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Kabuki Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Abnormal form of the vertebr...	ORPHA:2322
Intermediate Uveitis	Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate...	ORPHA:279914
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Failure to thrive in infancy, Elevated circulating C-reactive protein ...	OMIM:612852
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Enlarged joints, Tapered finger, Short neck, Flattened epiphysis, Genu valg...	OMIM:607131
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Hypospadias, Joint stiffness, Microcephaly, Postnatal gro...	OMIM:619184
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Hemivertebrae, Knee flexi...	OMIM:151050
Peters-Plus Syndrome	Hypoplasia of the vagina, Single transverse palmar crease, Proximal placement of thumb, Limited e...	OMIM:261540
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal pupil morph...	ORPHA:101082
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased c...	ORPHA:171876
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Flared metaphysis, Decreased osteoclast cou...	OMIM:259720
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:203400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Suleiman-El-Hattab Syndrome	Optic disc pallor, Epicanthus, Ventricular septal defect, Single transverse palmar crease, Highly...	OMIM:618950
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Rothmund-Thomson Syndrome Type 1	Calcinosis, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Small for gestatio...	ORPHA:221008
Silver-Russell Syndrome Due To A Point Mutation	Relative macrocephaly, Syndactyly, Bifid scrotum, Small for gestational age, Hypospadias, Hypogly...	ORPHA:397590
Oculodentodigital Dysplasia, Autosomal Recessive	Epicanthus, Broad long bones, Sparse eyelashes, Telecanthus, Fifth finger distal phalanx clinodac...	OMIM:257850
Bile Acid Synthesis Defect, Congenital, 5	Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia	OMIM:616278
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t...	ORPHA:3138
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Corneal opacity, Craniosynostosis, Growth delay, Palmoplantar kerat...	ORPHA:79396
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:610600
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Os odontoideum, Joint laxity, Corneal opacity, Microcephaly, Postnatal growth retarda...	OMIM:616603
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short stature, Congenital diaphragmatic hernia, Short neck, Missing ribs...	ORPHA:1834
Acrofrontofacionasal Dysostosis 2	Bifid scrotum, Syndactyly, Sacral dimple, Broad hallux, Hypospadias, Short stature, Microcephaly,...	OMIM:239710
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Broad hallux, Facial hypotonia, Postaxial polydactyly, Microcephaly, Hip...	OMIM:616362
Hemochromatosis, Type 4	Diabetes mellitus, Cataract, Impaired glucose tolerance, Increased circulating ferritin concentra...	OMIM:606069
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Decreased response to growth hormone stimulation test, Fasting hypoglycemi...	ORPHA:96182
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Micropenis, Retinal...	OMIM:209900
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Growth delay, Hypoalbuminemia, Hypotriglyceridemia, Hypo...	OMIM:246700
Jeune Syndrome	Abnormality of retinal pigmentation, Toe syndactyly, Short stature, Micromelia, Postaxial hand po...	ORPHA:474
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused ...	ORPHA:1724
3Mc Syndrome 3	Bifid scrotum, Sacral dimple, Corneal opacity, Short stature, Highly arched eyebrow, Diastasis re...	OMIM:248340
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Proximal placement of thumb, Knee flexion contracture, Atrial septal def...	ORPHA:435638
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, Sclerocornea, Congenital diaphragma...	ORPHA:818
Trisomy 18	Congenital diaphragmatic hernia, Microcornea, Atrial septal defect, Iris coloboma, Bilateral sing...	ORPHA:3380
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Corneal opacity, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Apla...	ORPHA:1765
Atelosteogenesis Type Iii	Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasia, Abnormality...	ORPHA:56305
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:264350
Grant Syndrome	Joint dislocation, Bowing of the long bones, Short stature, Abnormal rib morphology, Decreased sk...	ORPHA:2097
Marburg Hemorrhagic Fever	Back pain, Reticulocytosis, Lymphopenia, Pericarditis, Hypoglycemia, Elevated circulating creatin...	ORPHA:99826
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Postaxial han...	OMIM:615630
Methylcobalamin Deficiency Type Cble	Syndactyly, Hypomethioninemia, Macrocytic anemia, Pancytopenia, Microcephaly, Postnatal growth re...	ORPHA:2169
Bohring-Opitz Syndrome	Joint dislocation, Flexion contracture, Abnormal optic nerve morphology, Atrial septal defect, Ag...	OMIM:605039
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,...	OMIM:173800
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Conjugated hyperbilirubinemia, Hip dysplasia, Arthrogryposis multiplex...	OMIM:208085
Ollier Disease	Micromelia, Joint stiffness, Precocious puberty, Bone pain, Osteolysis, Platyspondyly, Abnormal m...	ORPHA:296
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis, Downslanted palpebral fissures, Postaxial pol...	OMIM:612913
Radio-Tartaglia Syndrome	Epicanthus, Ventricular septal defect, Highly arched eyebrow, Tapered finger, Long eyebrows, Micr...	OMIM:619312
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Epicanthus, Cataract, Sclerocornea, Short neck, Cryptorchidism, Abs...	OMIM:614230
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Bacterial Toxic-Shock Syndrome	Myositis, Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Myocarditis...	ORPHA:36234
Radial-Renal Syndrome	Absent radius, Chromosome breakage, Short stature, Absent thumb	OMIM:179280
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Hyponatremia, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre...	ORPHA:90794
Congenital Enterovirus Infection	Abnormal macrophage morphology, Pericardial effusion, Thrombocytopenia, Leukocytosis, Myocarditis...	ORPHA:292
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Small scrotum, Malformed lacrimal duct, Vertebral segmentation...	ORPHA:2052
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vert...	ORPHA:3109
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,...	ORPHA:570
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Joubert Syndrome 37	Prominent metopic ridge, Lumbar hyperlordosis, Short stature, Postaxial polydactyly, Cryptorchidi...	OMIM:619185
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Male pseudohermaphroditism, Hyperkalemia, Avascular necrosis...	ORPHA:90790
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Axenfeld-Rieger Syndrome, Type 3	Patent ductus arteriosus, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the an...	OMIM:602482
Miller-Dieker Lissencephaly Syndrome	Epicanthus, Sacral dimple, Cataract, Single transverse palmar crease, Microcephaly, Cryptorchidis...	OMIM:247200
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Cryptorchidism, Hyperkalemia, Lethargy, Failure to thrive	ORPHA:97362
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Wormian bo...	OMIM:166210
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, H...	OMIM:307500
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro...	ORPHA:268261
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom foot, Cryptorchidis...	ORPHA:163979
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Corneal opacity, Absent thumb, Aplasia/Hypoplasia of the dista...	ORPHA:1234
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Synophr...	ORPHA:3455
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
1Q41Q42 Microdeletion Syndrome	Hypergonadotropic hypogonadism, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, H...	ORPHA:250999
Gapo Syndrome	Keratoconus, Sparse eyelashes, Palpebral edema, Short stature, Sparse eyebrow, Delayed skeletal m...	ORPHA:2067
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop...	OMIM:308050
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Single transverse palmar crease, External genital hypoplasia...	ORPHA:96334
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac...	OMIM:259420
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c...	OMIM:610947
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Clinodactyly of the 5th finger, Micro...	ORPHA:464306
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	OMIM:603553
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:177735
Mpi-Cdg	Hypothyroidism, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Ectropion of lower eyelids, Pineal cyst, E...	OMIM:615873
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia, Hernia, Hiatus hernia	ORPHA:101009
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H...	OMIM:147750
Nephrotic Syndrome, Type 1	Small for gestational age, Hypothyroidism, Hyperlipidemia, Growth delay, Hypoalbuminemia, Hypopro...	OMIM:256300
Xeroderma Pigmentosum, Complementation Group D	Entropion, Cataract, Microcephaly, Keratitis, Defective DNA repair after ultraviolet radiation da...	OMIM:278730
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Anteri...	ORPHA:536467
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Distal Xq28 Microduplication Syndrome	Metatarsus adductus, Clinodactyly, Tip-toe gait, Neonatal hyperbilirubinemia	ORPHA:293939
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Sotos Syndrome	Joint laxity, Ventricular septal defect, Accelerated skeletal maturation, Sparse eyebrow, Cryptor...	OMIM:117550
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Basilicata-Akhtar Syndrome	Short palm, Epicanthus, Telecanthus, Single transverse palmar crease, Short neck, Precocious pube...	OMIM:301032
Cleidocranial Dysplasia	Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased skull ossificatio...	ORPHA:1452
Matthew-Wood Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas...	ORPHA:2470
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone diaphyses, H...	ORPHA:93325
Congenital Disorder Of Glycosylation, Type Iil	Epicanthus, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase concent...	OMIM:614576
Roberts-Sc Phocomelia Syndrome	Short neck, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, Shallow orbits, Phocomeli...	OMIM:268300
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, General...	OMIM:264090
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Maternal diabetes, Hemivertebrae, Micropenis, Dy...	OMIM:134780
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Short stature, R...	OMIM:617102
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ...	OMIM:609441
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Short neck, Asplenia, C...	OMIM:249000
Acro-Renal-Mandibular Syndrome	Finger syndactyly, Hypoplasia of the ulna, Hypoplastic scapulae, Congenital diaphragmatic hernia,...	ORPHA:958
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Cardi...	ORPHA:3472
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Generalized bone demineralization, Hyperu...	ORPHA:199299
Revesz Syndrome	Abnormality of chromosome stability, Aplastic anemia, Leukocoria, Exudative retinopathy, Intraute...	OMIM:268130
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Abno...	ORPHA:90673
Bainbridge-Ropers Syndrome	Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Arachnodactyly, H...	OMIM:615485
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Epicanthus, Cataract, Iris hypopigmentation, Camptodactyly of finger, Scleroco...	ORPHA:284160
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Atrial septal defect, Epicanthus, Cataract, Small for gestational age, Hypospadias...	OMIM:257300
Anencephaly 2	Anophthalmia, Anencephaly, Short palpebral fissure	OMIM:619452
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Postnatal growth retardatio...	OMIM:616294
Wildervanck Syndrome	Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema, Lens subluxation	ORPHA:3456
Familial Glucocorticoid Deficiency	Hyponatremia, Precocious puberty, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, We...	ORPHA:361
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Short stature, Single transverse palmar crease, Highly arched eyebrow, Microcephaly, ...	OMIM:614701
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck	OMIM:118100
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ...	OMIM:602418
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract...	OMIM:231070
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Ptosis, Telecanthus, Hypospadias, Proximal placement of thumb, Short neck, Tracheomal...	OMIM:217980
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Bradykinesia, Steppage gait, Increased total iron binding capacity, Unconjugat...	OMIM:613280
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr...	ORPHA:91500
Santos Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu...	OMIM:613005
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Proximal femoral metaphyseal irregularity, Subretinal deposits, Early os...	ORPHA:397715
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal ...	OMIM:619534
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal...	OMIM:609945
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Clubbing, Hyperostosis, Hypoalbuminemia, Periostosis, Knee pain	OMIM:614441
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Chorioretinal dysplasia, Hypoammonemia, Abnormal pupil morphology, Lentiglob...	ORPHA:534
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Failure to thrive, Hyperbilirubinemia	OMIM:214950
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Abnormal size of the palpebral fissures, Microcornea, Anterior synechiae of the anterior chamber,...	ORPHA:3214
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Failure to thrive, Rickets, Hypocholesterolemia	OMIM:607765
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Sacral dimple, Cataract, Short stature, Abnormality of thyroid physiology, Postaxia...	OMIM:300968
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Fanconi Anemia, Complementation Group Q	Chromosome breakage, Short stature, Microcephaly, Absent thumb, Primum atrial septal defect, Grow...	OMIM:615272
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Shallow orbits, Clinodactyly of the 5th finger, Megalocornea, Pr...	ORPHA:1272
Bile Acid Synthesis Defect, Congenital, 2	Failure to thrive, Hyperbilirubinemia	OMIM:235555
Anemia, Congenital Dyserythropoietic, Type Iv	Hypospadias, Weight loss, Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Micropenis, Reduce...	OMIM:613673
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Highly arched eyebrow, Postaxial polydactyly, Bilateral ptosis, Kyphos...	ORPHA:404440
Intellectual Disability, Buenos-Aires Type	Short stature, Blepharophimosis, Microcephaly, Reduced bone mineral density, Abnormal pelvic gird...	ORPHA:3079
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Hyperglycemia, Abnormal vertebr...	ORPHA:444077
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300009
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Decreased muscle mass, Postnatal growth retardation, Metaphyseal widening, Abnormal form of the v...	ORPHA:73230
Craniometaphyseal Dysplasia, Autosomal Dominant	Facial palsy, Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Abnormal pelvic gird...	OMIM:123000
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Corneal erosion, ...	ORPHA:87
Laurence-Moon Syndrome	Small scrotum, Short stature, Abnormality of the hand, Chorioretinal atrophy, Obesity, Pigmentary...	OMIM:245800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Atrial septal defect, Ventricular septal defect, Pos...	OMIM:603387
Acute Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna...	ORPHA:529799
Septopreoptic Holoprosencephaly	Microcephaly, Precocious puberty, Abnormal rib morphology, Anterior hypopituitarism, Central diab...	ORPHA:280195
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna...	ORPHA:529808
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, T...	ORPHA:140
Biemond Syndrome Type 2	Hypospadias, Hypogonadotropic hypogonadism, Short stature, Preaxial polydactyly, Obesity, Hypogon...	ORPHA:141333
Neurofibromatosis Type 1	Abnormal eyelid morphology, Pheochromocytoma, Chorioretinal coloboma, Heterochromia iridis, Genu ...	ORPHA:636
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re...	OMIM:615113
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Back pain, Single transverse palmar crease, Abnormal curvature of the vertebral co...	OMIM:619475
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Pseudohypoaldosteronism Type 2	Hyperkalemia, Abnormal dental enamel morphology	ORPHA:757
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Short neck, Clinodactyly of the 5th finger, J...	OMIM:616145
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Gout, Increased total bilirubin	OMIM:232800
Kleefstra Syndrome Due To A Point Mutation	Short stature, Tapered finger, Large for gestational age, Microcephaly, Precocious puberty, Devel...	ORPHA:261652
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Hyperammo...	ORPHA:3008
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Abnormal morphology of ulna, Short neck, Cryptorchidism, Genu valgu...	ORPHA:1340
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Vertebral segmentation defect, Abnormal tricuspid valve morpholo...	ORPHA:1507
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent...	ORPHA:79318
Rhyns Syndrome	Osteopenia, Brachydactyly, Radial bowing, Short stature, Decreased response to growth hormone sti...	OMIM:602152
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level	ORPHA:95715
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Genu recurvatum, Splenomegaly, Abnormal pupil m...	ORPHA:2969
Omodysplasia 1	Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, Increased fibul...	OMIM:258315
Endocrine-Cerebroosteodysplasia	Small scrotum, Single transverse palmar crease, Micromelia, Adrenal hypoplasia, Preaxial polydact...	OMIM:612651
Nijmegen Breakage Syndrome	Hemolytic anemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Short stature...	ORPHA:647
Prader-Willi Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:739
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Single transverse palmar crease, Biliary hyperplasia, Micropenis, Pancr...	ORPHA:83617
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardiac ventricle mo...	ORPHA:85443
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Bone p...	ORPHA:666
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc...	ORPHA:904
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Epicanthus, Short stature, Aplasia of the thymus, Decreased response to growt...	OMIM:618223
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio...	OMIM:615994
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Short stature, Abnormal toe mor...	OMIM:163200
Wiedemann-Steiner Syndrome	Decreased response to growth hormone stimulation test, Accelerated skeletal maturation, Synophrys...	ORPHA:319182
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A...	ORPHA:64743
Opitz-Kaveggia Syndrome	Multiple joint contractures, Single transverse palmar crease, Short neck, Partial agenesis of the...	OMIM:305450
Hsd10 Disease	Postnatal growth retardation, Abnormal social behavior, Optic atrophy, Microcephaly	ORPHA:391417
Adnp Syndrome	Single transverse palmar crease, Abnormal finger morphology, Juvenile cataract, Iris coloboma, Jo...	ORPHA:404448
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Microcephaly, Multiple muscular ventricular septal defects, Growth delay, Palmoplantar keratoderm...	OMIM:615508
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Epicanthus, Thin bony cortex, Short stature, Ventricular septal defect, Op...	OMIM:619727
Fanconi Anemia, Complementation Group V	Short stature, Elevated circulating alpha-fetoprotein concentration, Microcephaly, Chromosomal br...	OMIM:617243
Hereditary Geniospasm	Abnormality of mentalis muscle, Abnormal social behavior	ORPHA:53372
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Short neck, Hemivertebrae, Femoral bowing, Anteriorly displaced genitalia, Foot ol...	OMIM:276820
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemia, Hypermethio...	OMIM:617156
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	OMIM:602579
Diamond-Blackfan Anemia 1	Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropenia,...	OMIM:105650
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Small for gestational age, Hyperbilirubinemia	OMIM:224120
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Hyperkalemia, Highly elevated creatine kinase, Hyperphos...	ORPHA:99845
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow...	OMIM:617137
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology, Macrocephaly,...	ORPHA:1506
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Epicanthus, Micromelia...	OMIM:614091
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thrive	ORPHA:427
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Abnormal curvature of the vertebral column, Atrial septal defect, Abnormal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Abnormal curvature of the vertebral column, Atrial septal defect, Abnormal...	ORPHA:353277
Rothmund-Thomson Syndrome	Calcinosis, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morphology, Small for ge...	ORPHA:2909
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Inguinal hernia, Short femur, Rhizomelia, Bowing of the long bones, Mic...	OMIM:613848
Chromosome Xp11.23-P11.22 Duplication Syndrome	Medial flaring of the eyebrow, Shyness, Precocious puberty, 2-3 toe cutaneous syndactyly, Synophr...	OMIM:300801
Mend Syndrome	Sacral dimple, Cataract, Broad hallux, Overlapping toe, Short stature, Long fingers, Kyphosis, Cr...	OMIM:300960
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Thyroiditis, Uveitis, Wei...	ORPHA:171
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Short neck, Delayed early-childhood social milestone developme...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Short neck, Delayed early-childhood social milestone developme...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Short neck, Delayed early-childhood social milestone developme...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Short neck, Delayed early-childhood social milestone developme...	ORPHA:881
Sickle Cell Anemia	Osteomyelitis, Osteoporosis, Elevated circulating creatinine concentration, Unconjugated hyperbil...	ORPHA:232
Degcags Syndrome	Osteopenia, Syndactyly, Hypospadias, Hiatus hernia, Cryptorchidism, Short thumb, Delayed skeletal...	OMIM:619488
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia, Failure to thrive	OMIM:619484
Kinsship Syndrome	Osteopenia, Sacral dimple, Short stature, Single transverse palmar crease, Coxa valga, Short neck...	OMIM:619297
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp...	ORPHA:217085
Ulnar-Mammary Syndrome	Deformed radius, Small scrotum, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Apl...	OMIM:181450
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Peters anomaly, Clinodactyly of the 5th finger, Patent foramen ovale, Syndactyly, Lumbar hyperlor...	OMIM:616975
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Orofaciodigital Syndrome Viii	Syndactyly, Telecanthus, Short stature, Polydactyly, Short tibia	OMIM:300484
Rabson-Mendenhall Syndrome	Fasting hyperinsulinemia, Fasting hypoglycemia, Atrial septal defect, Hypothyroidism, Enlarged ov...	ORPHA:769
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Hemivertebrae, Radiou...	OMIM:212780
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micromelia, Proximal placement of thumb, Sh...	ORPHA:199
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ...	ORPHA:1067
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Ataxia, Hyperbilirubinemia	ORPHA:713
Cranioectodermal Dysplasia 2	Unilateral ptosis, Short neck, Atrial septal defect, Patent foramen ovale, Joint laxity, Syndacty...	OMIM:613610
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Cherry red spot of the macula, Optic atrophy,...	ORPHA:93400
Solitary Median Maxillary Central Incisor	Anophthalmia, Short stature, Decreased response to growth hormone stimulation test, Microcephaly,...	OMIM:147250
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Block vertebrae, Ventricular septal defect, Hypoplasia of ...	OMIM:164210
3Mc Syndrome 2	Torticollis, Hypospadias, Diastasis recti, Highly arched eyebrow, Blepharophimosis, Limited elbow...	OMIM:265050
Tarp Syndrome	Finger syndactyly, Thick eyebrow, Extramedullary hematopoiesis, Rocker bottom foot, Postaxial pol...	ORPHA:2886
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp...	ORPHA:217093
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Hemivertebrae, Hypoplasia of the ulna, Split hand, Split foot, B...	OMIM:200980
Joubert Syndrome 7	Encephalocele, Retinal dystrophy, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum,...	OMIM:611560
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Narrow greater sciatic notch, Short tibia, Unicoronal synostosis, Encephalo...	OMIM:616300
Meckel Syndrome, Type 10	Occipital encephalocele, Epicanthus, Ulnar deviation of the hand, Sacral dimple, Hypospadias, Pos...	OMIM:614175
Melnick-Needles Syndrome	Omphalocele, Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kypho...	OMIM:309350
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Agenesis of corpus callos...	OMIM:613091
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Secundum atrial septal defect, Metaphyseal widening, Sub...	ORPHA:99646
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Obesity, Hyperbilirubinemia	OMIM:609734
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Asplenia, Patchy reduction of bone miner...	ORPHA:221120
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Chorioretinal...	ORPHA:857
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Short neck, Knee flexion contracture, Femoral b...	OMIM:601559
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Failure to thrive, Elevated circulating alpha-feto...	OMIM:617049
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, A...	ORPHA:2928
Lenz-Majewski Hyperostotic Dwarfism	External genital hypoplasia, Epispadias, Abnormal finger morphology, Symphalangism affecting the ...	ORPHA:2658
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di...	OMIM:613406
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Sclerocornea, Single transv...	OMIM:216340
Woolly Hair Nevus	Precocious puberty, Persistent pupillary membrane, Heterochromia iridis, Brachydactyly	ORPHA:79414
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Mesomelia-Synostoses Syndrome	Ptosis, Telecanthus, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short m...	OMIM:600383
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Accelerated skel...	OMIM:130070
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Short metacarpal, Toe syndactyly, Scapular winging, Delayed skeletal maturation, Sh...	OMIM:170390
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Aplasia of the ulna, Sh...	ORPHA:2879
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy...	OMIM:144750
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Growth delay, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating l...	ORPHA:567548
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Micromelia, Short neck, Microcephaly, Microcornea, Deep palmar crease, Asti...	ORPHA:1675
Aspartylglucosaminuria	Inguinal hernia, Abnormal morphology of ulna, Joint stiffness, Delayed skeletal maturation, Arthr...	ORPHA:93
Xeroderma Pigmentosum, Complementation Group A	Entropion, Microcephaly, Keratitis, Defective DNA repair after ultraviolet radiation damage, Conj...	OMIM:278700
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Acrofrontofacionasal Dysostosis 1	Ptosis, Short metacarpal, Iris atrophy, Short stature, Long eyebrows, Optic atrophy, Long eyelash...	OMIM:201180
Cockayne Syndrome B	Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of the iris, Square pelvis ...	OMIM:133540
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia	ORPHA:69665
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Failure to thrive	OMIM:601847
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Hypokalemia, Failure to thrive, Rickets	OMIM:611590
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormality of the parathyroid gland, Abnor...	ORPHA:3429
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Abnormal pericardium morphology, Leukocytosis, Weight loss, Hypoalbu...	ORPHA:67
Tarp Syndrome	Atrial septal defect, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease,...	OMIM:311900
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Primrose Syndrome	Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c...	OMIM:259050
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Overlapping toe, Highly arched eyebrow, Tapered finger, Accelerated skeletal maturati...	OMIM:618653
Dystonia 28	Torticollis, Short stature, Microcephaly, Precocious puberty, Clinodactyly of the 5th finger, Hyp...	ORPHA:589618
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Short neck, Clitoral hypoplasia, Micropenis, Short phalanx of finger, Pa...	OMIM:616894
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Riddle Syndrome	Conjunctival telangiectasia, Short stature, Elevated circulating alpha-fetoprotein concentration,...	ORPHA:420741
X-Linked Intellectual Disability, Nascimento Type	Overlapping toe, Hypospadias, Lower extremity joint dislocation, Cryptorchidism, Clubbing of toes...	ORPHA:163956
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P...	OMIM:114290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cataract, Elevated circulating creatine kinase concentration, Spinal rigidity, Pet...	OMIM:613150
Harderoporphyria	Increased circulating ferritin concentration, Neonatal hyperbilirubinemia	OMIM:618892
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Patent foramen ovale, Joi...	OMIM:157800
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Holoprosencephaly 9	Anophthalmia, Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimula...	OMIM:610829
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Ogden Syndrome	Inguinal hernia, Congenital hip dislocation, Sandal gap, Broad hallux, Prominent metopic ridge, M...	OMIM:300855
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ptosis, Epicanthus, Cataract, Short stature, ...	ORPHA:1587
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Postnatal g...	OMIM:263750
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retinopathy, Proportionate short stature, Precocious puberty, Short toe, Obesity, Con...	OMIM:619269
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, Abnorma...	OMIM:166600
Neu-Laxova Syndrome 1	Micromelia, Short neck, Calcaneovalgus deformity, Neonatal death, Pterygium, Agenesis of corpus c...	OMIM:256520
9P13 Microdeletion Syndrome	Epicanthus, Short stature, External genital hypoplasia, Highly arched eyebrow, Joint stiffness, P...	ORPHA:324313
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Retinal detachment, Toe syndactyly, Displacement of the urethral meatus, Paten...	ORPHA:1556
Dentici-Novelli Neurodevelopmental Syndrome	Upslanted palpebral fissure, Precocious puberty, Cataract, Microcephaly	OMIM:619877
Hamamy Syndrome	Osteopenia, Microcytic anemia, Clinodactyly of the 5th finger, Atrial septal defect, Long toe, Sy...	OMIM:611174
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Bicuspid aortic valve, Vertebral segmentation defect, Abnormal optic nerve morphology...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Bicuspid aortic valve, Vertebral segmentation defect, Abnormal optic nerve morphology...	ORPHA:352665
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon...	ORPHA:2250
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, 2-3 toe ...	ORPHA:1596
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Cryptorchidism, Obesity, Short long bone, Rod-cone dystrophy, Horizontal r...	OMIM:615633
Mandibuloacral Dysplasia	Hypertriglyceridemia, Abnormally large globe, Increased circulating free fatty acid level, Postna...	ORPHA:2457
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Short neck,...	ORPHA:263508
Bile Acid Synthesis Defect, Congenital, 3	Failure to thrive, Hyperbilirubinemia	OMIM:613812
Nephronophthisis 15	Polydactyly, Obesity, Retinal degeneration	OMIM:614845
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Neurocardiofaciodigital Syndrome	Syndactyly, Optic disc pallor, Cataract, Small for gestational age, Short stature, Sclerocornea, ...	OMIM:619869
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Short stature, Remnants of the hyaloid vascular system, Microcephal...	ORPHA:2714
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Hand poly...	OMIM:314390
Donohue Syndrome	Skeletal muscle atrophy, Precocious puberty, Postnatal growth retardation, Delayed skeletal matur...	OMIM:246200
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Deformed humerus, Abnormality of the uterus, Abn...	ORPHA:2975
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Short stature...	OMIM:309000
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, ...	OMIM:617895
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa...	ORPHA:1772
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Epicanthus, Hypospadias, Short stature, Tracheomalacia, Microcephaly, Dys...	ORPHA:314679
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Preaxial polydact...	OMIM:243605
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Pancreatic fibrosis, Postaxial polydactyly, Ventricular septal defect,...	OMIM:615503
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Seckel Syndrome	Sandal gap, Short stature, Cachexia, Craniosynostosis, Microcephaly, Delayed skeletal maturation,...	ORPHA:808
Hereditary Spherocytosis	Ataxia, Gout, Hyperbilirubinemia	ORPHA:822
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short humerus, Skeletal muscle atrophy, Short femur, Hypospadias, Hypogly...	ORPHA:17
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Telecanthus, Duplication of thumb phalanx, Tarsal synostosis, Short...	ORPHA:2756
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Orofaciodigital Syndrome V	Unilateral ptosis, Sandal gap, Unilateral cryptorchidism, Postaxial polydactyly, Microcephaly, Ve...	OMIM:174300
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Single transverse palmar crease, Short neck, Tibi...	OMIM:269150
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Toe syndactyly, Obesity	ORPHA:217377
Ulbright-Hodes Syndrome	Maternal diabetes, Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morpholo...	ORPHA:3404
Orofaciodigital Syndrome Vi	Tibial bowing, Agenesis of corpus callosum, Short stature, Central Y-shaped metacarpal, Hypothala...	OMIM:277170
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Brachydactyly, Lipoatrophy, Recurrent fractures, Hyperextensibility of the kne...	OMIM:601812
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Delayed skel...	ORPHA:90793
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive, Rickets	OMIM:602722
Legius Syndrome	Cataract, Short stature, Acute monocytic leukemia, Macrocephaly, Diaphyseal dysplasia, Xanthelasm...	ORPHA:137605
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Overriding aorta, Mi...	ORPHA:3186
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Epicanthus, Short stature, Highly arched eyebrow, Bilateral cr...	ORPHA:2754
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Joint laxity, Precocious puberty, Scoliosis, Microcephaly	ORPHA:457260
Proteus Syndrome	Central heterochromia, Decreased muscle mass, Neoplasm of the thymus, Abnormal finger morphology,...	ORPHA:744
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Cataract, Sandal gap, Broad hallux, Unilateral narrow palpebral fissure, Optic atr...	OMIM:618727
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia, Ataxia, Short neck, Brachydactyly	ORPHA:168577
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Dextrocardia, Short neck, Precocious puberty, Long fingers, Synophrys,...	ORPHA:96092
Mohr Syndrome	Syndactyly, Telecanthus, Wormian bones, Short stature, Preaxial hand polydactyly, Postaxial hand ...	OMIM:252100
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Weight loss, Reduced bo...	OMIM:619377
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Short neck, Synophrys, Epicanthus inversus, Atrial septal defect, Ta...	OMIM:613458
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Precocious puberty, Dila...	ORPHA:2229
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Microcephaly, Precocious puberty, Scoliosis, Decreased body weight, Dysplastic pulmonary valve	OMIM:300958
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Syndactyly, Brachydactyly, Telecanthus, Small for gestational age, Severe short statu...	OMIM:615789
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Epicanthus, Postaxial polydactyly, Cryptorchidism, Synophrys, Upslanted palpebral fissure, Intrau...	OMIM:615824
Genitourinary And/Or Brain Malformation Syndrome	Micropenis, Agenesis of corpus callosum, Syndactyly, Streak ovary, Hypospadias, Cryptorchidism, G...	OMIM:618820
Senior-Loken Syndrome 9	Osteopenia, Hypoplasia of the femoral head, Retinal dystrophy, Obesity, Macular degeneration, Pol...	OMIM:616629
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Scoliosis	ORPHA:95232
Ellis Van Creveld Syndrome	Micromelia, Epispadias, Atrial septal defect, Atrioventricular canal defect, Neonatal short-limb ...	ORPHA:289
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro...	OMIM:616860
Malignant Migrating Focal Seizures Of Infancy	Precocious puberty, Failure to thrive, Scoliosis, Microcephaly	ORPHA:293181
Addison Disease	Hyponatremia, Primary testicular failure, Hypercalcemia, Hyperkalemia, Weight loss, Generalized b...	ORPHA:85138
Meningioma	Back pain, Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neo...	ORPHA:2495
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Failure to thrive, Hyperbilirubinemia	OMIM:606812
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Xeroderma Pigmentosum, Complementation Group E	Entropion, Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis, Ec...	OMIM:278740
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, B lymphocytopenia, Intrauterine growth retardation, Reduced natural killer cell cou...	OMIM:620133
Fontaine Progeroid Syndrome	Small scrotum, Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Synophrys, Ne...	OMIM:612289
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Flexion contracture, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Growt...	OMIM:608612
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Elevated circulating parathyroid hormone level, Pheochromocytoma,...	ORPHA:97685
Au-Kline Syndrome	Vertebral segmentation defect, Shallow orbits, Clinodactyly of the 5th finger, Prominent metopic ...	OMIM:616580
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomagnesemia	OMIM:175500
Arnold-Chiari Malformation Type I	Stiff neck, Areflexia of upper limbs, Gait ataxia, Progressive cerebellar ataxia, Fused cervical ...	ORPHA:268882
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Ataxia	OMIM:608885
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Microcephaly, Precocious puberty, Short distal phalanx of toe, Atrial septal defect, Bilateral tr...	OMIM:619356
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Delayed closure of the anterior fontanelle, Increased circulating ...	OMIM:614887
Seckel Syndrome 10	Ventricular hypertrophy, Retinal detachment, Hypertriglyceridemia, Severe short stature, Elevated...	OMIM:617253
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Disproportionate short-limb short stature, Limited pronation/s...	DECIPHER:58
Ring Chromosome 12 Syndrome	Syndactyly, Lumbar hyperlordosis, Small for gestational age, Microcephaly, Secundum atrial septal...	ORPHA:1439
W Syndrome	Hypoplasia of the ulna, Telecanthus, Radial bowing, Metatarsus adductus, Elbow dislocation, Campt...	ORPHA:2804
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Mccune-Albright Syndrome	Accelerated skeletal maturation, Bone pain, Abnormal femur morphology, Aneurysmal bone cyst, Hype...	ORPHA:562
Cystinosis	Rickets, Hypokalemia, Gait disturbance, Hypophosphatemia, Failure to thrive	ORPHA:213
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Atrial septal defect, Joint laxity, Short stature, Thorac...	ORPHA:480880
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Short neck, Septate vagina, Wide anterior fontanel, Co...	OMIM:617925
Hemochromatosis, Type 1	Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulatin...	OMIM:235200
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Missing ribs, Hypopl...	OMIM:184705
Sclerosteosis 1	Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, 2-3 finger syndactyly, Optic atrophy, ...	OMIM:269500
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Decreased circulating cerulopla...	OMIM:304150
Xeroderma Pigmentosum, Complementation Group C	Entropion, Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis, Ec...	OMIM:278720
Peters Plus Syndrome	Micromelia, Short neck, Bicuspid pulmonary valve, Microcornea, Clitoral hypoplasia, Clinodactyly ...	ORPHA:709
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Cervical C2/C3 vertebral ...	ORPHA:1780
Coffin-Siris Syndrome 1	Single transverse palmar crease, Congenital diaphragmatic hernia, Partial agenesis of the corpus ...	OMIM:135900
Teebi-Shaltout Syndrome	Syndactyly, Ptosis, Ulnar deviation of the hand, Telecanthus, Rocker bottom foot, Highly arched e...	OMIM:272950
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia, Hiatus hernia	OMIM:609727
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Bicuspid aortic valve, Asplenia, Abnormal pupil morphology, Calcaneovalgus deformi...	ORPHA:261552
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Osteoporosis, Obesity, Abdominal obesity, Hypokalemia, Biconcave vertebral bodies, Vert...	OMIM:219090
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Lacrimoauriculodentodigital Syndrome	Abnormal salivary gland morphology, Abnormal digit morphology, Syndactyly, Finger syndactyly, Inc...	ORPHA:2363
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At...	OMIM:306955
Familial Dysautonomia	Hyponatremia, Corneal opacity, Recurrent fractures, Abnormal pupil morphology, Corneal erosion, O...	ORPHA:1764
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Premature thelarche, Prominent fingertip pads, Atr...	OMIM:147920
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating renin level, Hyperu...	ORPHA:95409
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Optic atrophy, Megalopapilla,...	OMIM:615636
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Cataract, Short stature, Noncompaction cardiomyopathy, Thrombocy...	ORPHA:508542
Septooptic Dysplasia	Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Decreased response to growth hormon...	OMIM:182230
Okamoto Syndrome	Prominent metopic ridge, Ventricular septal defect, Abnormal mitral valve morphology, Abnormally ...	ORPHA:2729
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Polydactyly, Rod-cone dys...	OMIM:613464
Neonatal Marfan Syndrome	Long toe, Iridodonesis, Arachnodactyly, Small for gestational age, Ectopia lentis, Long fingers, ...	ORPHA:284979
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology, Sparse lateral eyebrow	ORPHA:170
Juvenile Polyposis Syndrome	Clubbing, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Flexion contracture, Palmoplantar hyperkeratosis, Glucose intolerance, Shallow orbits...	OMIM:619127
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Scleroderma, Familial Progressive	Calcinosis, Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Glycogen Storage Disease Xii	Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia...	OMIM:611881
Charcot-Marie-Tooth Disease Type 1E	Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness...	ORPHA:90658
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Accelerated skeletal maturation, Vertebral segmentation defect, ...	OMIM:312870
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese...	ORPHA:79102
Autoimmune Hepatitis	Arthritis, Increased total bilirubin	ORPHA:2137
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Isosexual precocious puberty, Premature thelarche, Precocious ...	ORPHA:90795
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit...	ORPHA:2378
Pearson Marrow-Pancreas Syndrome	Lethargy, Failure to thrive, Small for gestational age, Hyperbilirubinemia	OMIM:557000
Charcot-Marie-Tooth Disease Type 4C	Neuropathic spinal arthropathy, Optic atrophy, Anisocoria, Hammertoe, Hip dysplasia, Distal amyot...	ORPHA:99949
Knobloch Syndrome 1	Occipital encephalocele, Persistent pupillary membrane, Spina bifida occulta, Attenuation of reti...	OMIM:267750
Joubert Syndrome 14	Encephalocele, Epicanthus, Ventricular septal defect, Highly arched eyebrow, Postaxial polydactyl...	OMIM:614424
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ...	OMIM:607634
Neurooculorenal Syndrome	Iris atrophy, Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Sh...	OMIM:620305
Coxoauricular Syndrome	Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi...	ORPHA:1508
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Telecanthus, Large for gestational age, Microcephaly, Cuboid-sh...	OMIM:612731
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Single transverse palmar crease, Hypocalcemia, Joint laxity, Rhizomelia, S...	OMIM:218330
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Mosaic Trisomy 16	Syndactyly, Small for gestational age, Single transverse palmar crease, Hypospadias, Maternal dia...	ORPHA:1708
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Preaxial polydactyly, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Norrie Disease	Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Aplasia/Hypopla...	ORPHA:649
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Osteoporosis, Hypoalbuminemia, A...	ORPHA:186
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Lethargy, Failure to thrive	OMIM:229600
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Epicanthus, Congenital hip dislocation, Absent nipple, Patent ductus arteriosus, Hemi...	OMIM:104350
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Ectropion of lower eyelids...	OMIM:614976
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Short stature, Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant dia...	OMIM:262190
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle...	ORPHA:254892
Vater/Vacterl Association	Occipital encephalocele, Preaxial polydactyly, Triphalangeal thumb, Patent urachus, Abnormal vert...	OMIM:192350
Unilateral Ocular Duplication	Encephalocele, Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Macrocephaly,...	ORPHA:3374
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypo...	OMIM:603671
Spastic Paraplegia 9A, Autosomal Dominant	Cataract, Short stature, Delayed skeletal maturation, Abnormal pelvic girdle bone morphology, Gen...	OMIM:601162
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Elevated circulating th...	OMIM:618183
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Long fingers, Kyphosi...	OMIM:617527
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Mild postnatal growth retardation, Single transverse palmar crease, Bicuspid aortic v...	OMIM:150230
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Flexion contracture, Glucose intolerance, Early onset of sexua...	OMIM:194050
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Vaginal atresia, Microphthalmia, Cr...	OMIM:248450
Bardet-Biedl Syndrome 6	Syndactyly, Diabetes mellitus, Hypospadias, External genital hypoplasia, Postaxial polydactyly, O...	OMIM:605231
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Liver Disease, Severe Congenital	Hyperalaninemia, Hyponatremia, Inguinal hernia, Joint laxity, Hypospadias, Elevated circulating a...	OMIM:619991
Ataxia-Telangiectasia	Conjunctival telangiectasia, Lymphopenia, Diabetes mellitus, Female hypogonadism, Short stature, ...	OMIM:208900
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Alexander Disease	Osteopenia, Diabetes mellitus, Facial palsy, Short neck, Hyperlordosis, Kyphosis, Precocious pube...	ORPHA:58
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae	OMIM:619227
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Severe B lymphocytopenia, A...	OMIM:102700
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Genu recurvatum, Corneal opacity, Microcephaly, Postnatal growth retard...	ORPHA:90348
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Hypercholesterolemia, Fa...	ORPHA:275761
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Increased T cell count, Growth delay, Increased B cell count, Hypopituitarism, Failur...	ORPHA:98813
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Epicanthus, Telecanthus, Palpebral edema, Cataract, Short stature, Blepharophi...	OMIM:181270
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine...	ORPHA:3202
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:151660
Isolated Biliary Atresia	Severe failure to thrive, Failure to thrive, Small for gestational age, Conjugated hyperbilirubin...	ORPHA:30391
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short neck, Prominent fingertip pads, Short stature, Tapered finger, Hyperlordosis, Precocious pu...	OMIM:619950
Oculotrichoanal Syndrome	Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Cryptophthalmos	ORPHA:2717
Global Developmental Delay With Speech And Behavioral Abnormalities	Supernumerary nipple, Microcephaly, Precocious puberty, Cryptorchidism, Macrocephaly, Downslanted...	OMIM:619243
Bardet-Biedl Syndrome 20	Papilledema, Hypercholesterolemia, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial han...	OMIM:619471
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short metacarpal, Short...	OMIM:303600
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Delayed skeletal maturation, Hyperbilirubinemia, Umbil...	OMIM:218700
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Palpebral edema, Hypoalbuminemia	ORPHA:567546
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Accelerated skeletal maturation, Hyperlipidemia, Hyperkalemia, Obesity, Scoliosis, ...	ORPHA:293987
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Arachnodactyly, Cardiomegaly, Patent ductus arteriosus, Abnormality iris m...	ORPHA:91387
Hardikar Syndrome	Thoracolumbar scoliosis, Osteoporosis, Hyperbilirubinemia, Umbilical hernia, Failure to thrive	OMIM:301068
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Epiphyseal dysplasia, Calcinosis, Congenital hip dislocation, Osteopenia, Inability...	OMIM:617913
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor...	ORPHA:85327
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Short neck,...	OMIM:619879
Elsahy-Waters Syndrome	Bifid scrotum, Cataract, Penoscrotal hypospadias, Hypospadias, Bilateral cryptorchidism, Synophry...	OMIM:211380
Apparent Mineralocorticoid Excess	Hypokalemia, Failure to thrive, Small for gestational age, Decreased circulating renin level	OMIM:218030
Ethylene Glycol Poisoning	Hyperkalemia, Ataxia, Hypocalcemia	ORPHA:31826
Orofaciodigital Syndrome Iv	Epicanthus, Toe syndactyly, Short stature, Postaxial polydactyly, Hand polydactyly, Foot polydact...	OMIM:258860
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Levator palpebrae s...	ORPHA:45358
Peripheral Primitive Neuroectodermal Tumor	Back pain, Abnormal thoracic spine morphology, Neoplasm of the pancreas, Torticollis, Elevated ca...	ORPHA:370348
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia	OMIM:266200
Hemorrhagic Fever-Renal Syndrome	Back pain, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Decrea...	ORPHA:340
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Absent thumb, Absent radius, Lateral ventricle dilatation, Forearm undergrowth	OMIM:602200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Upper eyeli...	ORPHA:457284
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Bicuspid aortic valve, Asplenia, Calcaneovalgus deformity, Flexion contracture, We...	ORPHA:261537
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth horm...	ORPHA:95494
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:608594
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Failure to thrive, Hyperkalemia	ORPHA:293978
Joubert Syndrome 16	Encephalocele, Retinal dystrophy, Polydactyly	OMIM:614465
Faundes-Banka Syndrome	Epicanthus, Joint hypermobility, Premature thelarche, Cryptorchidism, Hypoplasia of the lower eye...	OMIM:619376
Johanson-Blizzard Syndrome	Joint laxity, Small for gestational age, Hypospadias, Septate vagina, Urethrovaginal fistula, Sin...	OMIM:243800
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Accelerated skeletal maturation, Ambiguous genita...	OMIM:202010
Cranioectodermal Dysplasia 3	Joint laxity, Telecanthus, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostos...	OMIM:614099
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Short stature, Obesity	ORPHA:369873
Estrogen Resistance Syndrome	Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Absence of secondary se...	ORPHA:785
Mowat-Wilson Syndrome	Bifid scrotum, Bicuspid aortic valve, Asplenia, Calcaneovalgus deformity, Flexion contracture, We...	ORPHA:2152
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Short stature, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Paten...	OMIM:617088
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:269700
Caroli Disease	Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Weight loss	ORPHA:53035
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Joubert Syndrome 27	Retinopathy, Polydactyly	OMIM:617120
Congenital Erythropoietic Porphyria	Osteopenia, Scarring, Increased connective tissue, Scarring alopecia of scalp, Abnormal circulati...	ORPHA:79277
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thoracic scoliosis, Broad hallux, Single transverse palmar crease, Hydrocele testis, Unconjugated...	OMIM:620186
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Ptosis, Telecanthus, Prominent metopic ridge, Abnormal heart morphology, Polydactyly, Downslanted...	ORPHA:314655
Rh Deficiency Syndrome	Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Orofaciodigital Syndrome I	Syndactyly, Epicanthus, Telecanthus, Short stature, Microcephaly, Pancreatic cysts, Myelomeningoc...	OMIM:311200
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Joubert Syndrome 23	Dysplastic corpus callosum, Polydactyly	OMIM:616490
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Polydactyly, Abnormality of the uterus, Macrocephaly, C...	ORPHA:59315
East Syndrome	Ataxia, Inability to walk, Hypokalemia, Increased circulating renin level, Difficulty walking, Hy...	ORPHA:199343
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa...	ORPHA:567983
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Leprechaunism	Reduced subcutaneous adipose tissue, Enlarged ovaries, Overgrowth of external genitalia, Labial h...	ORPHA:508
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Preaxial polydactyly, Obesity, Downslanted palpebral fissures, Abnormal neuro...	ORPHA:163681
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental...	ORPHA:2119
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Tay-Sachs Disease	Skeletal muscle atrophy, Hip flexor weakness, Increased serum beta-hexosaminidase, Lower limb mus...	ORPHA:845
Liddle Syndrome	Hypokalemia	ORPHA:526
Hypomagnesemia 2, Renal	Hypokalemia, Chondrocalcinosis, Hypomagnesemia	OMIM:154020
Cystinosis, Nephropathic	Hyponatremia, Failure to thrive in infancy, Metaphyseal widening, Delayed skeletal maturation, Ri...	OMIM:219800
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Delayed skeletal maturation, Elevated circulating creatinine concentr...	ORPHA:411634
Fanconi Renotubular Syndrome 1	Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia	OMIM:134600
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Optic Pathway Glioma	Precocious puberty, Papilledema, Growth delay, Optic atrophy	ORPHA:2086
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
X-Linked Sideroblastic Anemia	Splenomegaly, Glucose intolerance, Anemia, Abnormality of iron homeostasis	ORPHA:75563
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Bicuspid aortic valve, Atrial septal defect, Hypothyroidism, Patent foramen ovale, Jo...	ORPHA:438213
Gitelman Syndrome	Ataxia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Failure to thrive, Chondr...	OMIM:263800
Mullegama-Klein-Martinez Syndrome	Short stature, Facial palsy, Curly eyelashes, Microcephaly, Congenital diaphragmatic hernia, Poly...	OMIM:301022
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conjunctivitis...	OMIM:149730
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi...	ORPHA:1112
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia	OMIM:300908
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Septic arthritis, Hyperkalemia, Hypocalcemia	ORPHA:544482
Hartsfield Syndrome	Syndactyly, Epicanthus, Hypospadias, Diabetes insipidus, Craniosynostosis, Microcephaly, Cryptorc...	OMIM:615465
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Telecanthus, Broad hallux, Ventricular septal defect, Retinitis, Microce...	OMIM:615948
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Short stature, Microcephaly, Optic atrophy, Palmoplantar hy...	OMIM:231550
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Abnormality of the knee, Failure to thrive in infancy, Osteomalacia, Cho...	ORPHA:51608
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hyperc...	OMIM:601678
Caroli Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:480520
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Tropical Endomyocardial Fibrosis	Right ventricular cardiomyopathy, Eosinophilia, Cachexia, Cardiomegaly, Left atrial enlargement, ...	ORPHA:75565
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Short stature, Tapered finger, Epiblepharon, Microcephaly, Lateral ve...	OMIM:618367
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive	OMIM:214700
Familial Peripheral Male-Limited Precocious Puberty	Accelerated skeletal maturation, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Congenital diaphragmatic hernia...	OMIM:616546
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Unconjugated hyperbilirubinemia	OMIM:618278
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity	OMIM:604931
Cholera	Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Palmoplantar cutis lax...	ORPHA:173
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Epicanthus, Small for gestational age, Short stature, Bicuspid aortic valve, Microcepha...	OMIM:613355
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Retinitis Pigmentosa 74	Optic disc pallor, Obesity, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-co...	OMIM:616562
Mowat-Wilson Syndrome	Bifid scrotum, Microcornea, Chorioretinal coloboma, Atrial septal defect, Agenesis of corpus call...	OMIM:235730
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Impaired glucose tolerance, Elevated circulating creatine kinase concentration, Facial palsy, Glu...	OMIM:610131
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Phakomatosis Pigmentokeratotica	Spina bifida, Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Pheochromocytoma, Scoliosis, ...	ORPHA:2874
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Ventricular septal defect, Microcephaly, Precocious puberty, Cryptorchidism, Pat...	OMIM:616682
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior	ORPHA:101039
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Reynolds Syndrome	Calcinosis, Palmar telangiectasia, Hyperbilirubinemia	OMIM:613471
Estrogen Resistance	Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Delayed skeletal...	OMIM:615363
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria, Short lower limbs, Bowing of the legs	OMIM:219250
Sarcoidosis	Increased T cell count, Uveitis, Leukopenia, Hypothyroidism, Hemolytic anemia, Hyperthyroidism, F...	ORPHA:797
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Bone pain, Weight loss, Hypophosphatemia, Increased s...	ORPHA:3337
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Yellow Fever	Low back pain, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	ORPHA:99829
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Short stature, Microcephaly, Leukocoria, Microphthalmia	OMIM:257910
Apparent Mineralocorticoid Excess	Hypokalemia, Failure to thrive, Decreased circulating renin level	ORPHA:320
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch...	OMIM:241200
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia, Failure to thrive	ORPHA:411629
Gitelman Syndrome	Maternal diabetes, Glucose intolerance, Iron deficiency anemia, Hypocalcemia, Hashimoto thyroidit...	ORPHA:358
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse eyebrow, Sparse eyelashes, Hypoalbuminemia, Microcephaly	OMIM:614748
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive	OMIM:613090
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Hypokalemia, Ovarian neoplasm	ORPHA:231632
Senior-Boichis Syndrome	Increased total bilirubin	ORPHA:84081
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Postaxial foot polydactyly, Bile duct prolif...	OMIM:607361
Distal Renal Tubular Acidosis	Osteomalacia, Rickets, Bone pain, Reduced bone mineral density, Increased susceptibility to fract...	ORPHA:18
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Athetosis, Hypokalemia	ORPHA:369929
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Hydrometrocolpos, Obesity, Postaxial foot polydactyly, Polydactyly, H...	OMIM:615989
Adrenocortical Carcinoma	Hypokalemia, Increased body weight, Weight loss	ORPHA:1501
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Pancreatic cysts, Polydactyly, Rod-cone dystrophy	OMIM:616307
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, 2-3 toe syndactyly, Glucose intolerance, Glycosuria, Hypertrophic cardio...	OMIM:616539
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Osteoarthritis, Abnormal pupil morphology, Uterine...	ORPHA:286
Mccune-Albright Syndrome	Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm...	OMIM:174800
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Atrial septal defect, Arachnodactyly, Protrusio acetabuli, Postaxial po...	OMIM:610168
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Enamel hypoplasia, Neonatal hyperbilirubinemia	OMIM:300896
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Ataxia, Hypokalemia, Dysdiadochokinesis, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Tsh-Secreting Pituitary Adenoma	Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Osteoporosis, Weight loss, Hypoka...	ORPHA:91347
Tolchin-Le Caignec Syndrome	Thick eyebrow, Arachnodactyly, Hooded eyelid, Diastasis recti, Precocious puberty, Nasolacrimal d...	OMIM:618971
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Athetosis, Hypokalemia, Decreased circulating renin level	OMIM:615474
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, Lethargy, R...	ORPHA:447
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Increased circulating renin ...	ORPHA:89938
Corticosteroid-Binding Globulin Deficiency	Hypokalemia	OMIM:611489
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Microcephaly, Precocious puberty, Short finger, Broad finger, Umbilica...	ORPHA:1934
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Retinal ar...	OMIM:175780
Choanal Atresia	Tracheomalacia, Polydactyly, Craniosynostosis	ORPHA:137914
Collagenoma, Familial Cutaneous	Iris atrophy, Right ventricular cardiomyopathy, Primary testicular failure, Cardiomyopathy	OMIM:115250
Pearson Syndrome	Small for gestational age, Ataxia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, H...	ORPHA:699
Lipodystrophy, Familial Partial, Type 7	Cataract, Small for gestational age, Hypertriglyceridemia, Impaired glucose tolerance, Insulin re...	OMIM:606721
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Skeletal muscle atrophy, Ptosis	OMIM:146500
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive, Ataxia	OMIM:618426
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Mercury Poisoning	Hypokalemia	ORPHA:330021
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Oligozoospermia, Hypokalemia, Ambiguous genitalia, Female pseudohermaphroditism	ORPHA:786
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi...	OMIM:180500
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,...	OMIM:137920
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive	OMIM:602522
Proximal Renal Tubular Acidosis	Enamel hypomineralization, Bicarbonaturia, Reduced bone mineral density, Hypokalemia, Failure to ...	ORPHA:47159
Vipoma	Hypokalemia, Hypercalcemia, Subcutaneous lipoma, Weight loss	ORPHA:97282
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Retinal hamartoma, Pancreatic endocrine tumor, Pituitary adenoma, P...	ORPHA:805
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Increased circulating renin level	OMIM:607364
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro...	OMIM:619573
Carney Complex	Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova...	ORPHA:1359
Metachromatic Leukodystrophy, Adult Form	Abnormal social behavior, Optic atrophy, Neoplasm of the gallbladder	ORPHA:309271
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior, Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Metachromatic Leukodystrophy, Late Infantile Form	Abnormal social behavior, Optic atrophy	ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form	Abnormal social behavior, Optic atrophy	ORPHA:309263
Scorpion Envenomation	Hypokalemia, Increased circulating NT-proBNP concentration, Ataxia, Increased circulating creatin...	ORPHA:466677
Nelson Syndrome	Hypokalemia, Testicular neoplasm	ORPHA:199244
Childhood Absence Epilepsy	Abnormal social behavior	ORPHA:64280
Tuberous Sclerosis 2	Retinal hamartoma, Precocious puberty, Cardiac rhabdomyoma, Achromatic retinal patches, Adenoma s...	OMIM:613254
Bifid Nose With Or Without Anorectal And Renal Anomalies	Precocious puberty, Ebstein anomaly of the tricuspid valve, Rectovaginal fistula, Thick eyebrow	OMIM:608980
Autosomal Recessive Primary Microcephaly	Short stature, Microcephaly, Upslanted palpebral fissure, Growth delay, Abnormal cortical bone mo...	ORPHA:2512
Tuberous Sclerosis 1	Precocious puberty, Cardiac rhabdomyoma, Achromatic retinal patches, Adenoma sebaceum, Hypothyroi...	OMIM:191100
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Abnormal social behavior, Palpebral edema, Macrocephaly	ORPHA:314647
Niemann-Pick Disease Type C	Bone-marrow foam cells, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hepat...	ORPHA:646
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Microcephaly 6, Primary, Autosomal Recessive	Microcephaly	OMIM:608393

Histopathology

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

Phenotype	Allele	Zygosity	Sex	Life Stage
Testes - process of degenerative change	Cenpj^{tm1a(EUCOMM)Wtsi}	HOM		Early adult

IMPC related publications

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

There are 14 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Endoderm development requires centrioles to restrain p53-mediated apoptosis in the absence of ERK activity.	Developmental cell (December 2021)	Cenpj^{tm1a(EUCOMM)Wtsi} Cenpj^{tm1c(EUCOMM)Wtsi} Cenpj^{tm1d(EUCOMM)Wtsi}	PMC8797031
High proliferation and delamination during skin epidermal stratification.	Nature communications (May 2021)	Cenpj^{tm1c(EUCOMM)Wtsi} Cenpj^{tm1d(EUCOMM)Wtsi}	PMC8163813
Gradual centriole maturation associates with the mitotic surveillance pathway in mouse development.	EMBO reports (January 2021)	Cenpj^{tm1a(EUCOMM)Wtsi}	PMC7857428
Loss of the centrosomal protein Cenpj leads to dysfunction of the hypothalamus and obesity in mice.	Science China. Life sciences (August 2020)	Cenpj^{tm1a(EUCOMM)Wtsi} Cenpj^{tm1c(EUCOMM)Wtsi}	32803714
Centrioles control the capacity, but not the specificity, of cytotoxic T cell killing.	Proceedings of the National Academy of Sciences of the United States of America (February 2020)	Cenpj^{tm1c(EUCOMM)Wtsi}	32041868
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Cenpj^{tm1a(EUCOMM)Wtsi} Cenpj^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Cenpj^{tm1a(EUCOMM)Wtsi} Cenpj^{tm1a(EUCOMM)Wtsi}	PMC6459510
The centrosome protein AKNA regulates neurogenesis via microtubule organization.	Nature (February 2019)	Cenpj^{tm1c(EUCOMM)Wtsi}	30787442
Cenpj Regulates Cilia Disassembly and Neurogenesis in the Developing Mouse Cortex.	The Journal of Neuroscience (January 2019)	Cenpj^{tm1a(EUCOMM)Wtsi} Cenpj^{tm1c(EUCOMM)Wtsi}	30626697
Cortical neurogenesis in the absence of centrioles.	Nature neuroscience (October 2014)	Cenpj^{tm1a(EUCOMM)Wtsi} Cenpj^{tm1c(EUCOMM)Wtsi}	PMC4213237
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Cenpj^{tm1a(EUCOMM)Wtsi}	PMC3996542
Acentriolar mitosis activates a p53-dependent apoptosis pathway in the mouse embryo.	Proceedings of the National Academy of Sciences of the United States of America (March 2014)	Cenpj^{tm1a(EUCOMM)Wtsi} Cenpj^{tm1c(EUCOMM)Wtsi} Cenpj^{tm1d(EUCOMM)Wtsi} Cenpj^{tm1b(EUCOMM)Wtsi}	PMC3992648
Robust and sensitive analysis of mouse knockout phenotypes.	PloS one (December 2012)	Cenpj^{tm1a(EUCOMM)Wtsi}	PMC3530558
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.	PLoS genetics (November 2012)	Cenpj^{tm1a(EUCOMM)Wtsi}	PMC3499256

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cenpj^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cenpj^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cenpj MGI:2684927

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lacZ Expression

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Human diseases caused by Cenpj mutations

Histopathology

IMPC related publications

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