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Gene: Psph MGI:97788

Gene Summary

Name:

phosphoserine phosphatase

Synonyms:

PSPase

Order Alleles

IMPC Data Collections

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
abnormal embryo size	Psph^{tm1.1(KOMP)Vlcg}	HOM	E12.5	0.00
microphthalmia	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
anophthalmia	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
pallor	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
increased heart rate variability	Psph^{tm1.1(KOMP)Vlcg}	HET	Early adult	4.96×10^-05
abnormal craniofacial morphology	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
abnormal heart morphology	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
abnormal embryo size	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Psph^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal eye morphology	Psph^{tm1.1(KOMP)Vlcg}	HOM	E12.5	0.00
decreased circulating triglyceride level	Psph^{tm1.1(KOMP)Vlcg}	HET	Early adult	9.07×10^-05
edema	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
small adrenal glands	Psph^{tm1.1(KOMP)Vlcg}	HET	Early adult	0.00
cardiovascular system phenotype	Psph^{tm1.1(KOMP)Vlcg}	HET	Early adult	8.75×10^-05
pale placenta	Psph^{tm1.1(KOMP)Vlcg}	HOM	E15.5	0.00
pale yolk sac	Psph^{tm1.1(KOMP)Vlcg}	HOM	E12.5	0.00
thrombocytopenia	Psph^{tm1.1(KOMP)Vlcg}	HET	Early adult	1.61×10^-05
preweaning lethality, complete penetrance	Psph^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	0.00

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Viewing: all phenotypes

lacZ Expression

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

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

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

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	40% (2 of 5)
Central nervous system ganglion	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	heterozygote	0.0% (0 of 5)
Embryo	N/A	heterozygote	40% (2 of 5)
Eye	N/A	heterozygote	40% (2 of 5)
Footplate	N/A	heterozygote	40% (2 of 5)
Forebrain	N/A	heterozygote	40% (2 of 5)
Forelimb	N/A	heterozygote	40% (2 of 5)
Gut	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	heterozygote	40% (2 of 5)
Head	N/A	heterozygote	0.0% (0 of 5)
Heart	N/A	heterozygote	40% (2 of 5)
Hindbrain	N/A	heterozygote	40% (2 of 5)
Hindlimb	N/A	heterozygote	40% (2 of 5)
Liver	N/A	heterozygote	40% (2 of 5)
Lung	N/A	heterozygote	0.0% (0 of 5)
Mandibular process	N/A	heterozygote	40% (2 of 5)
Maxillary process	N/A	heterozygote	40% (2 of 5)
Midbrain	N/A	heterozygote	40% (2 of 5)
Nose	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 5)
Skeleton	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	0.0% (0 of 5)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 5)
Tail	N/A	heterozygote	40% (2 of 5)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Urinary system	N/A	heterozygote	Ambiguous

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

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

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

Anatomy	Background staining in controls(WT)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

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X-ray

XRay Images Whole Body Lateral Orientation

28 Images

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X-ray

XRay Images Skull Lateral Orientation

27 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

29 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Embryo LacZ

LacZ images wholemount

20 Images

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X-ray

XRay Images Forepaw

14 Images

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Adult LacZ

LacZ Images Section

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

9 Images

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DSS Histology

Images

8 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Psph^{tm1a(EUCOMM)Hmgu}
WT, Male, WTSI

Psph^{tm1a(EUCOMM)Hmgu}
HET, Female, WTSI

View all 80 images

Psph^{tm1a(EUCOMM)Hmgu}
TS20 yolk sac, HET, Female, WTSI

Psph^{tm1a(EUCOMM)Hmgu}
TS20 heart, HET, Male, WTSI

Psph^{tm1a(EUCOMM)Hmgu}
TS20 atrium, HET, Male, WTSI

Psph^{tm1a(EUCOMM)Hmgu}
upturned snout, asymmetric snout, abnormal snout morphology, head, HET, Male, WTSI

Psph^{tm1a(EUCOMM)Hmgu}
corneal opacity, HET, Female, WTSI

Psph^{tm1a(EUCOMM)Hmgu}
eyelids fail to open, HET, Male, WTSI

Human diseases caused by Psph mutations

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

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

Human diseases associated with Psph (2 diseases)
Human diseases predicted to be associated with Psph (2528 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Phosphoserine Phosphatase Deficiency		Postnatal growth retardation, Intrauterine growth retardation	OMIM:614023
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form		Palpebral edema, Hypospadias, Micrognathia, Postnatal growth retardation, Wide mouth, Gastroesoph...	ORPHA:79350

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

Disease	Matching phenotypes	Source
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ...	OMIM:601808
Emanuel Syndrome	Multiple joint contractures, Congenital hip dislocation, Dental crowding, Congenital diaphragmati...	ORPHA:96170
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Polyhydramnios, Micrognathia...	OMIM:620186
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, Generalized joint...	ORPHA:93932
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ...	OMIM:609029
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Gener...	ORPHA:508498
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Low anterior ha...	OMIM:618223
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo...	ORPHA:363958
Verheij Syndrome	Branchial cyst, Short neck, Hemivertebrae, Renal cyst, Coloboma, Joint laxity, Vertebral fusion, ...	OMIM:615583
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep...	ORPHA:2162
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Thoracic scoliosis, Congenital hip dislocation, Sing...	ORPHA:508488
22Q11.2 Deletion Syndrome	Polyhydramnios, Short neck, Micrognathia, Anorectal anomaly, Abnormal lung lobation, Abnormal aor...	ORPHA:567
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, ...	OMIM:180849
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Short neck, Asplenia, Micrognathia, Webbed neck, Lob...	OMIM:249000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Polyhydramnios, Abnormal left ventricular function, Leukopenia, Pulmonary artery atresia, Vesicou...	OMIM:301056
Mosaic Trisomy 1	Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Congenital dia...	ORPHA:1692
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebellar vermis hypoplasia, High, narrow palate, Anteriorly placed anus, Gastroesophageal reflu...	OMIM:618494
Stankiewicz-Isidor Syndrome	Ureteral duplication, Sacral dimple, Ventricular septal defect, Hypospadias, Prominent nose, Abse...	OMIM:617516
Acrootoocular Syndrome	Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Decreased ...	ORPHA:2980
Variant Abeta2M Amyloidosis	Amyloidosis of peripheral nerves, Intestinal perforation, Abnormal vascular morphology, Spinal co...	ORPHA:314652
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Sh...	OMIM:611209
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Parachute mitral valve, Prominent nose, Synophrys, Chiari type I malformation, G...	OMIM:618316
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Pectu...	ORPHA:1507
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Sotos Syndrome	Mandibular prognathia, Accelerated skeletal maturation, High, narrow palate, Partial agenesis of ...	OMIM:117550
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis...	OMIM:615873
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Prominent nose, Short ...	OMIM:210710
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Microcornea, Agenesis of corpus callosum, Broa...	ORPHA:2308
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous sy...	OMIM:618454
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Proximal placem...	ORPHA:818
Pallister-Hall Syndrome	Adrenal hypoplasia, Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Hemivertebrae...	ORPHA:672
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Multiple pterygia, Micrognathia, Symphalangism affe...	ORPHA:2990
Charge Syndrome	Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the ...	ORPHA:138
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Sclerocornea, Micrognathia, Abnormal fo...	ORPHA:280
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, Facial capillary hemangioma, Micrognath...	OMIM:270400
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Bilat...	ORPHA:2409
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, Synophrys, High palate, Clinodactyly of the 5th finger, Conductive h...	OMIM:617877
Acrofacial Dysostosis 1, Nager Type	Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphrag...	OMIM:154400
Alg12-Cdg	Polyhydramnios, Proximal placement of thumb, Micrognathia, Edema, Abnormal peripheral nervous sys...	ORPHA:79324
Osteopathia Striata-Cranial Sclerosis Syndrome	Micrognathia, High, narrow palate, Large iliac wing, Conductive hearing impairment, Spina bifida ...	ORPHA:2780
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of...	ORPHA:1606
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Short neck, Bowing of the legs, Edema, Lobulated tongue, Thoracic dysplasia, Holo...	OMIM:269860
Recombinant Chromosome 8 Syndrome	Micrognathia, Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, ...	OMIM:179613
Zttk Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protrudi...	OMIM:617140
Femoral-Facial Syndrome	Maternal diabetes, Micrognathia, Coxa vara, Sprengel anomaly, Orofacial cleft, Vertebral segmenta...	ORPHA:1988
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Congenital diaphrag...	ORPHA:1488
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Micrognathia, Hemivert...	OMIM:220210
Monosomy 22	Single transverse palmar crease, Short neck, Synophrys, High palate, Clinodactyly of the 5th fing...	ORPHA:96123
Lateral Meningocele Syndrome	Dental crowding, Short neck, Micrognathia, High, narrow palate, Abnormal form of the vertebral bo...	ORPHA:2789
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo...	ORPHA:2311
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Facial capillary...	OMIM:274000
Charge Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Abnormal palmar dermatogly...	OMIM:214800
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Distal Deletion 10Q	Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Clin...	ORPHA:96148
Doors Syndrome	Adrenal hyperplasia, Abnormal placental membrane morphology, Short lingual frenulum, Polyhydramni...	ORPHA:79500
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Sy...	ORPHA:261494
Toriello-Carey Syndrome	Short neck, Micrognathia, Partial agenesis of the corpus callosum, Clinodactyly, Anteriorly place...	ORPHA:3338
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Single transverse palmar crease, Micrognathia, Abnormal form of the verteb...	OMIM:194190
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Dental crowding, Single transverse palmar crease, Multip...	OMIM:619503
Ogden Syndrome	Congenital hip dislocation, Protruding ear, Microretrognathia, Global glomerulosclerosis, Short s...	OMIM:300855
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Congenital Disorder Of Glycosylation, Type Ih	Edema, Short neck, Protein-losing enteropathy, Neonatal death, Hypothyroidism, Hepatomegaly, Cryp...	OMIM:608104
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Sandestig-Stefanova Syndrome	Short neck, Orofacial cleft, High palate, Sparse medial eyebrow, Bilateral single transverse palm...	OMIM:618804
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Choanal atresia, Facial palsy, Carious teeth, Pre...	ORPHA:2316
Triploidy	Hypoplasia of penis, Polyhydramnios, Short neck, Micrognathia, Holoprosencephaly, Narrow chest, D...	ORPHA:3376
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve...	ORPHA:87
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Brachydactyly, Atrial septal defect, Truncu...	ORPHA:401935
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Neoplasm, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, ...	ORPHA:261330
Distal Monosomy 7Q36	Hypoplasia of penis, Short stature, Short neck, Pectus excavatum, Cryptorchidism, Bulbous nose, N...	ORPHA:1636
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Microcornea, High pala...	OMIM:244450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Coloboma, Congenital contracture, Hypoplasia of the brains...	OMIM:236670
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bicus...	ORPHA:284169
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, Rhombencephalosynapsis,...	ORPHA:280195
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Synophrys, Depressed nasal ridge, Abnormal lung lobation, ...	OMIM:607872
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Atrial...	ORPHA:2745
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conduct...	OMIM:277170
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Short neck, Underdeveloped nasal alae, High, narrow palate, Joint stif...	ORPHA:2516
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Posteriorly rotated ears, Single transverse palmar crease, Short stature, Cryptorc...	OMIM:615502
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Short neck, Deep philtrum, Pectus carinatum, Chiari type I malformation, Coarse h...	OMIM:617506
Robinow Syndrome	Dental crowding, Micrognathia, Pulmonary valve atresia, Hemivertebrae, Orofacial cleft, Atrial se...	ORPHA:97360
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Low anterior hairline, Prematur...	ORPHA:769
Trisomy 18	Congenital diaphragmatic hernia, Microcornea, Pointed helix, Holoprosencephaly, Atrial septal def...	ORPHA:3380
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P...	OMIM:213980
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Joint stiffness, Micro...	ORPHA:1166
Pseudotrisomy 13 Syndrome	Adrenal hypoplasia, Hemivertebrae, Holoprosencephaly, Atrial septal defect, Micropenis, Agenesis ...	OMIM:264480
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Synophrys, Interhypothalamic adhesion, High palate, Short philtrum, Thickened helices, Atrioventr...	OMIM:618929
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Long nose, Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Patent ductu...	ORPHA:363444
16P13.11 Microdeletion Syndrome	Gastroesophageal reflux, Holoprosencephaly, Atrial septal defect, Agenesis of corpus callosum, De...	ORPHA:261236
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Polyhydramnios, Abnormal cerebral vascular morphology, Cardiom...	ORPHA:363705
Diamond-Blackfan Anemia 7	Osteopenia, Polyhydramnios, Secundum atrial septal defect, Triphalangeal thumb, Neutropenia, Vesi...	OMIM:612562
Mosaic Variegated Aneuploidy Syndrome	Polyhydramnios, Micrognathia, Depressed nasal ridge, Abnormal lung lobation, Neoplasm, Holoprosen...	ORPHA:1052
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Os...	ORPHA:371428
Thanatophoric Dysplasia Type 2	Polyhydramnios, Micromelia, Holoprosencephaly, Narrow chest, Atrial septal defect, Encephalocele,...	ORPHA:93274
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Chromosome 9P Deletion Syndrome	Short neck, Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, ...	OMIM:158170
Phaver Syndrome	Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Pulmon...	ORPHA:2876
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Low anterior hairline, Short philt...	OMIM:301022
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, Hydrops fetalis, Orofacial cleft, ...	ORPHA:268249
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Peripheral retinal avascularization, Single tr...	ORPHA:96334
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Clinodactyly, Hemivertebra...	OMIM:268310
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Short neck, Micrognathia, Abnormality of the gingiva, Renal cyst, T...	ORPHA:798
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Micrognathia, Holoprosencepha...	ORPHA:1908
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Microretrognathia, Wide nose, Rocker bottom foot, Abnormal retinal morphology...	ORPHA:89844
Chromosome 1Q41-Q42 Deletion Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Vertebral segmentatio...	OMIM:612530
Mosaic Variegated Aneuploidy Syndrome 2	Decreased response to growth hormone stimulation test, Single transverse palmar crease, Micrognat...	OMIM:614114
Aicardi Syndrome	Cerebellar vermis hypoplasia, Proximal placement of thumb, Chorioretinal lacunae, Partial agenesi...	OMIM:304050
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Congenital diaphragmatic hernia, Long nose, Downturned corners of mouth, High pa...	OMIM:617602
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Gastroesophageal reflux, High...	OMIM:618651
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Wolff-Parkinson-White syndrome, Underdeveloped superior crus of antihe...	ORPHA:369950
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Brachydactyly, Short stature, Ventricular septal defect, Abnor...	ORPHA:1770
Alg3-Cdg	Abnormality of the gastrointestinal tract, Osteopenia, Cataract, Abnormal pinna morphology, Abnor...	ORPHA:79321
Neu-Laxova Syndrome 1	Polyhydramnios, Short neck, Fetal akinesia sequence, Micromelia, Swollen lip, Calcaneovalgus defo...	OMIM:256520
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat...	OMIM:103900
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flexion contract...	OMIM:224690
Kapur-Toriello Syndrome	Hypoplasia of penis, Posteriorly rotated ears, Intestinal malrotation, Ventricular septal defect,...	ORPHA:2328
Microform Holoprosencephaly	Hypoplasia of penis, Tented upper lip vermilion, Maternal diabetes, Orofacial cleft, Short philtr...	ORPHA:280200
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Micromelia, Proximal placement ...	ORPHA:199
Lateral Meningocele Syndrome	Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Short neck, Micrognathia, Chiari t...	OMIM:130720
Transaldolase Deficiency	Short neck, Deep philtrum, Synophrys, Hepatic fibrosis, Short philtrum, Atrial septal defect, Pat...	OMIM:606003
Sifrim-Hitz-Weiss Syndrome	Anteriorly placed anus, Atrial septal defect, Vesicoureteral reflux, Micropenis, Bifid uvula, Hyp...	OMIM:617159
Arnold-Chiari Malformation Type I	Stiff neck, Urinary incontinence, Areflexia of upper limbs, Cranial nerve compression, Chiari typ...	ORPHA:268882
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Depressed nasal bridge, Intestinal malrotation, Short stature, V...	ORPHA:3426
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Thrombocytopenia	OMIM:166990
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Short neck, Micrognathia, Hydrops fetalis, Renal cyst, Fused teeth, ...	OMIM:613610
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Acrocardiofacial Syndrome	Joint dislocation, Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Hyperthyroidism,...	ORPHA:2008
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Polyhydramnios, Parachute mitral valve, Asplenia, Micrognathia, Abnormal l...	OMIM:265380
Snijders Blok-Campeau Syndrome	Joint laxity, Atrial septal defect, Inguinal hernia, Prominent nose, Wide nasal bridge, Astigmati...	OMIM:618205
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal lun...	ORPHA:1120
Beare-Stevenson Cutis Gyrata Syndrome	Anteriorly placed anus, Choanal stenosis, High palate, Agenesis of corpus callosum, Bifid uvula, ...	OMIM:123790
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Hepatomegaly, Recurrent respiratory infections, Short stature, Ventricular sep...	OMIM:620210
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig...	ORPHA:3258
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Abnormal sa...	ORPHA:2345
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Conjunctivitis, Widely spaced...	OMIM:106260
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, Choanal stenos...	OMIM:218600
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Maternal diabetes, Orofacial cleft, Triphalangeal thumb, Vesicou...	ORPHA:2549
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect, Short stature, Absent tragus, Accessory oral frenulum, Micrognathia, Preaxi...	ORPHA:79113
Mosaic Trisomy 16	Single transverse palmar crease, Maternal diabetes, Abnormal lung morphology, Anteriorly placed a...	ORPHA:1708
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect, Wide nose, Thin upper lip vermilion, Abnormal nasal bone morphology, Choana...	ORPHA:521308
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Pulmonary artery at...	OMIM:601186
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c...	OMIM:265000
Monosomy 18P	Short neck, Micrognathia, Lymphedema, Protruding ear, Downturned corners of mouth, Enlarged thora...	ORPHA:1598
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Polyhydramnios, Bilateral cryptorchidism, Clinodactyly of the 5th finger, Dilated third ventricle...	ORPHA:544488
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia...	ORPHA:915
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Single transverse palmar crease, Micrognathia, Prelingual sensorineural hearing impairment, Low a...	ORPHA:73272
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Tented upper lip vermilion, Secundum atrial septal defect, Gastroesophageal reflux, Atrial septal...	OMIM:600987
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Cerebellar vermis hypoplasia, Urinary incontinence, Polyhydramnios, Micrognathia, Downturned corn...	OMIM:620070
Diabetic Embryopathy	Ureteral duplication, Micrognathia, Vertebral segmentation defect, Aplasia/Hypoplasia of the cere...	ORPHA:1926
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Short neck, Secundum atrial septal defect, Micrognathia, Low anterior ha...	OMIM:608779
Jacobsen Syndrome	Short neck, Micrognathia, Flexion contracture, Microcornea, Holoprosencephaly, Chorioretinal colo...	OMIM:147791
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Hemivertebrae,...	ORPHA:500150
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, High palate, Widely spaced teeth, Prominent fingertip pad...	OMIM:610443
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma...	OMIM:201000
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Synophrys, Hemivertebrae, Coxa vara, Pectus carinatum, Gastroeso...	OMIM:614701
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the v...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the v...	ORPHA:353277
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium	OMIM:615524
Fanconi Anemia, Complementation Group B	Aplastic anemia, Optic disc hypoplasia, Short neck, Abnormal lung lobation, Micropenis, Abnormal ...	OMIM:300514
Kabuki Syndrome 2	Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Atrial septal defect, Atriov...	OMIM:300867
Neurooculorenal Syndrome	Subglottic stenosis, Decreased circulating cortisol level, Ectopic posterior pituitary, Cerebella...	OMIM:620305
Microphthalmia, Syndromic 3	Anterior pituitary hypoplasia, Sclerocornea, Hemivertebrae, Coloboma, Micropenis, Agenesis of cor...	OMIM:206900
Restrictive Dermopathy	Osteopenia, Ureteral duplication, Multiple joint contractures, Premature delivery because of cerv...	ORPHA:1662
D-Bifunctional Protein Deficiency	Osteopenia, Decreased muscle mass, Polyhydramnios, Fetal ascites, Micrognathia, Renal cyst, High ...	OMIM:261515
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Synophrys, Conotruncal defect, Downturned corners of mouth, Vesicoureteral r...	ORPHA:96147
Kabuki Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Abnormal form of the vertebr...	ORPHA:2322
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Proximal femoral metaphyseal...	ORPHA:397715
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Cleft upper lip, Narrow mouth, Micrognathia, Ectopic kidney, 2-3 toe syndactyly,...	OMIM:239800
14Q22Q23 Microdeletion Syndrome	Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Downturned corners of mouth, Sho...	ORPHA:264200
Aicardi Syndrome	Partial agenesis of the corpus callosum, Protruding ear, Multiple lipomas, Gastroesophageal reflu...	ORPHA:50
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Short neck, Micrognathia, Pectus carinatum, G...	OMIM:616145
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Prominent nose, Sh...	OMIM:612474
Holoprosencephaly 5	Depressed nasal bridge, Anteverted nares, Central diabetes insipidus, Alobar holoprosencephaly, S...	OMIM:609637
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Conotruncal defect, Anotia,...	ORPHA:2306
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Prominent nose, Cardiomegaly, High, narrow palate, Pineal cyst, Gastroesophageal...	OMIM:300967
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Polyhydramnios, Edema, Aqueductal stenosis, Secundum a...	OMIM:619534
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Pseudoepiphyses, Gastroesophageal reflux, Conductive hearing imp...	OMIM:157800
Otofaciocervical Syndrome	Abnormal clavicle morphology, Scapular winging, Depressed nasal bridge, Anteverted nares, Down-sl...	ORPHA:2792
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow ...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow ...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow ...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow ...	ORPHA:881
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary ...	OMIM:306955
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Foot dorsiflexor weakness, Joi...	ORPHA:477817
Kbg Syndrome	Persistent open anterior fontanelle, Single transverse palmar crease, Short neck, Congenital malf...	ORPHA:2332
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Cy...	ORPHA:990
Peters Plus Syndrome	Ureteral duplication, Polyhydramnios, Short neck, Micromelia, Micrognathia, Bicuspid pulmonary va...	ORPHA:709
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Microcornea, Chiari type I malformation, Bifid uvula, Syndactyly, Agenesis of ce...	ORPHA:261552
Greenberg Dysplasia	Polyhydramnios, Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mi...	OMIM:215140
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Prominent nose, Hypoplasia of the maxilla, Enuresis nocturna, Hypoplasia...	ORPHA:251061
Lambotte Syndrome	Ventricular septal defect, Retrognathia, Intrauterine growth retardation, Atresia of the external...	OMIM:245552
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Coloboma, Neo...	ORPHA:353281
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgna...	ORPHA:1596
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Enlarged joints, Short stature, Pectus excavatum, Delayed epiphyseal ossification, Wide nasal bri...	ORPHA:166024
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Preeclampsia/Eclampsia 1	Hypertension, Thrombocytopenia	OMIM:189800
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Atri...	OMIM:301068
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Short stature, Abnormality of the hand, Primary a...	ORPHA:1590
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Micrognathia, High palate, Narrow greater sciatic notch, Conductive hearing impairment, Joint con...	OMIM:602471
Mosaic Trisomy 9	Hypoplasia of penis, Polyhydramnios, Short neck, Asplenia, Micromelia, Micrognathia, Hemivertebra...	ORPHA:99776
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume	OMIM:615193
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Polyhydramnios, Short neck, Fetal akinesia sequence, Hi...	OMIM:208150
Nicolaides-Baraitser Syndrome	Dry hair, Enlarged joints, Short lingual frenulum, Single transverse palmar crease, High, narrow ...	OMIM:601358
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Inguinal hernia, Hypospadias, Micrognathia, Postnatal growth retardation, Cryptorchid...	ORPHA:397590
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Gastroesophageal reflux, Thickened helices, Atrioventric...	OMIM:619480
Floating-Harbor Syndrome	Prominent nose, Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Downtu...	OMIM:136140
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Pulmonary embolism, Short neck, Depressed nasal ridge...	ORPHA:96264
Congenital Disorder Of Glycosylation, Type Iit	Tented upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Sandal gap, Short s...	OMIM:618885
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Epispadias, Partial agenesis...	OMIM:615948
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi...	ORPHA:3429
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Chorioretinal...	OMIM:280000
Noonan Syndrome	Micrognathia, Lymphedema, Abnormality of the spleen, Pectus carinatum, Enlarged thorax, Coarse ha...	ORPHA:648
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Micrognathia, Abnormality of the gingiva, Osteopathia striata, Pineal cyst, Gastroesophageal refl...	ORPHA:513456
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal ridge, Hydrops fetalis, Abnormal form of the vertebral bod...	ORPHA:354
Trisomy 13	High, narrow palate, Abnormal lung lobation, Hydrops fetalis, Narrow chest, Capillary hemangioma,...	ORPHA:3378
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Fraser Syndrome 1	Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Laryngeal stenosis, Cleft ala nasi, Dental ...	OMIM:219000
Benign Schwannoma	Intestinal polyposis, Nasal polyposis, Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Pe...	ORPHA:252164
Joubert Syndrome 14	Cerebellar vermis hypoplasia, Tented upper lip vermilion, Renal cyst, Intracranial hemorrhage, Co...	OMIM:614424
Catel-Manzke Syndrome	Micrognathia, Glossoptosis, Atrial septal defect, Clinodactyly of the 5th finger, Chronic otitis ...	ORPHA:1388
Crouzon Syndrome	Mandibular prognathia, Abnormality of the cervical spine, Dental crowding, Sagittal craniosynosto...	OMIM:123500
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Monosomy 9P	Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Micrognathia, Synophrys...	ORPHA:261112
Diamond-Blackfan Anemia 1	Short neck, Micrognathia, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebr...	OMIM:105650
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Accelerated skeletal maturation, Micrognathia, Hydrops fetalis, Narrow chest, Neo...	ORPHA:50945
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Decreased fetal movement, Recurrent respiratory infections, Glue ear, Broad nasal tip, Bifid nasa...	OMIM:619758
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Conductive hearing impai...	ORPHA:1307
3C Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Short neck, Micrognathia, High, narrow palate, Hemiverte...	ORPHA:7
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Hypoplasia of the pyramidal tract, Flexion contracture, Hypoplasia of th...	OMIM:253800
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Upli...	ORPHA:261537
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Single transverse palmar crease, Micrognathia, Protruding ear, High palate, Atrial septal defect,...	ORPHA:3304
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Delayed skeletal maturat...	OMIM:614857
Cerebellar-Facial-Dental Syndrome	Single transverse palmar crease, Short neck, Hypoplasia of the pons, Micrognathia, Hypoplasia of ...	ORPHA:444072
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Smooth philtrum, Posteriorly rotated ears, Decreased response to growth hormone stimulation test,...	OMIM:617260
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia	OMIM:613885
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia	OMIM:616176
Slc35A2-Cdg	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal long bone mo...	ORPHA:356961
Noonan Syndrome 2	Polyhydramnios, Short neck, Micrognathia, Pectus carinatum, Abnormal sternum morphology, High pal...	OMIM:605275
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Upli...	ORPHA:2152
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
17Q24.2 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Short neck, Micrognathia, Synophrys, Pinea...	ORPHA:529962
Floating-Harbor Syndrome	Enlarged joints, Short neck, Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, ...	ORPHA:2044
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Short neck, Micrognathia, Low anterior hairline, Re...	ORPHA:124
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Orofacial cleft, Vertebral segmentation defect, Aplasia of the n...	ORPHA:3186
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Edema, Intrauterine growth retardation	OMIM:616570
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Bundle branch block, Ureteral duplication, Congenital hip dislocation, Hyp...	ORPHA:373
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Short stature, Choanal atresia, Unilateral renal agenesis, Pectus excavatum, Esophagea...	OMIM:619227
Acrofacial Dysostosis Syndrome Of Rodriguez	Single transverse palmar crease, Prominent nose, Micrognathia, High palate, Short philtrum, Triph...	OMIM:201170
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Hypoplasia of the maxilla, Pectoral muscle hypoplasia/aplasia, Widely-s...	OMIM:136760
Esophageal Atresia	Subglottic stenosis, Maternal diabetes, Polyhydramnios, Bronchitis, Gastrointestinal dysmotility,...	ORPHA:1199
Platelet Signal Processing Defect	Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat...	OMIM:173590
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Adrenal hypoplasia, Polyhydramnios, Micromelia, Micrognathia, Pr...	OMIM:612651
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Aganglionic megacolon, Intestinal malrotation, Intestinal pseudo-obstruction...	OMIM:243180
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Atrial septal defect, Depressed nasal bridge, Transient ischemi...	OMIM:600268
Houge-Janssens Syndrome 3	Inguinal hernia, Single transverse palmar crease, Broad nasal tip, Muscular ventricular septal de...	OMIM:618354
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Sclerocornea, Cryp...	ORPHA:77298
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Orofacial cleft, Molar tooth sign on MRI, Abnormality of the hypoth...	ORPHA:220493
Congenital Rubella Syndrome	Hepatomegaly, Atrial septal defect, Cataract, Corneal opacity, Short stature, Ventricular septal ...	ORPHA:290
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Anteverted nares, Choanal atresia, Proximal placement of thumb, Short statu...	OMIM:610536
Alagille Syndrome 1	Long nose, Multiple small medullary renal cysts, Hemivertebrae, Microcornea, Papillary thyroid ca...	OMIM:118450
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Multiple joint contractures, Hypoplasia of the pons, Knee flexion contract...	ORPHA:468631
Digeorge Syndrome	Sclerocornea, Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morpholo...	OMIM:188400
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Alobar holoprosencephaly, Cryptorchidism, Kyphosis, High palate, Sho...	OMIM:615433
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Agenesis of cere...	OMIM:614815
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Micrognathia, Ectopic kidney, Ret...	OMIM:613309
Down Syndrome	Prenatal double bubble sign, Single transverse palmar crease, Short palm, Hypoplastic iliac wing,...	OMIM:190685
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Deviation of the thumb, High palate, Finger syndactyly, Broad hallux phalanx...	ORPHA:93259
Adams-Oliver Syndrome 4	Atrial septal defect, Microphthalmia, Umbilical hernia, Ventricular septal defect	OMIM:615297
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Short stature, Highly arched eyebrow, Underdeveloped nasal alae, Cleft ...	OMIM:611867
Bartsocas-Papas Syndrome 1	Short neck, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Flexion contractur...	OMIM:263650
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Accele...	OMIM:602535
Microphthalmia, Syndromic 2	Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Oligodontia, Fus...	OMIM:300166
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Fine hair, Aplasia/Hyp...	ORPHA:3236
17Q11 Microdeletion Syndrome	Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Bowing of the legs, Abnormal internal caro...	ORPHA:97685
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B...	OMIM:255800
Femoral-Facial Syndrome	Short fourth metatarsal, Maternal diabetes, Limited elbow movement, Micrognathia, Hemivertebrae, ...	OMIM:134780
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Protruding ear, Vertebral segme...	ORPHA:96169
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Decreased fetal movement, Multiple joint contractures, Camptodactyly of finger, Abnormal pleura m...	ORPHA:2570
Noonan Syndrome 10	Prominent corneal nerve fibers, Short neck, Pectus carinatum, High palate, Atrial septal defect, ...	OMIM:616564
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Accelerate...	ORPHA:1354
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, B-cell lymphoma, ...	OMIM:102700
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Fryns Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Microgna...	ORPHA:2059
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear,...	OMIM:147920
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Cleft palate, We...	OMIM:601355
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi...	OMIM:613686
Al Amyloidosis	Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, He...	ORPHA:85443
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Short neck, Fetal akinesia sequence, Cardiomegaly, Micrognathia, ...	OMIM:617022
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno...	OMIM:602450
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Proximal 16P11.2 Microdeletion Syndrome	Atrial septal defect, Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia...	ORPHA:261197
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Abnormality of the spleen, Abnormal finger morphology, Abnormal ...	ORPHA:2538
Bor Syndrome	Branchial cyst, Ureteropelvic junction obstruction, Multicystic kidney dysplasia, Renal insuffici...	ORPHA:107
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Synophrys, Microcornea, Gastroesophageal reflux, Joi...	ORPHA:363611
Coach Syndrome 1	Occipital encephalocele, Cerebellar vermis hypoplasia, Multiple small medullary renal cysts, Rena...	OMIM:216360
Arachnoid Cyst	Back pain, Urinary incontinence, Cranial nerve compression, Neoplasm, Holoprosencephaly, Sciatica...	ORPHA:2356
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,...	OMIM:616300
Braddock-Carey Syndrome 2	Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c...	OMIM:619981
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,...	ORPHA:245
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Prolonged QT interval, Hypoplasia of penis, Bilateral cryptorchidi...	ORPHA:66634
Agnathia-Otocephaly Complex	Wide nose, Polyhydramnios, Tracheomalacia, Secundum atrial septal defect, Situs inversus totalis,...	OMIM:202650
Holoprosencephaly 7	Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Synophrys, Hypoplastic nasal s...	OMIM:610828
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Polyhydramnios, Short neck, Beaded ribs, Cardiomegaly, Multiple prenatal fractures, F...	OMIM:616897
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Congenital diaphragmatic hernia, Short neck, Micromelia, High, n...	OMIM:122470
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Thickened nuchal skin fold, Tethered cord, Abnormal number of hair whorls, Mitral atresia, Patent...	OMIM:618164
Chromosome 13Q14 Deletion Syndrome	Single transverse palmar crease, Micrognathia, Anteverted ears, Deep philtrum, High palate, Holop...	OMIM:613884
Bilateral Perisylvian Polymicrogyria	Cerebellar dysplasia, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Choanal atresia,...	ORPHA:98889
16P13.11 Microduplication Syndrome	Arachnodactyly, Ventricular septal defect, Craniosynostosis, Pectus excavatum, Coarctation of aor...	ORPHA:261243
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Polyhydramnios, Micrognathia, Abnormal lung lobation, Or...	ORPHA:2166
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,...	OMIM:601357
Microcephaly-Micromelia Syndrome	Micromelia, Short neck, Aqueductal stenosis, Micrognathia, Narrow chest, Neonatal death, Short ti...	OMIM:251230
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Chronic otitis media, Abnormal a...	ORPHA:244
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Conductive hearing impai...	OMIM:150250
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Dysplastic corpus callosum, Cryptorchidism, Perimembranous ventricular...	OMIM:620135
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Facial palsy, Salivary gland neoplasm, Abnormality of the auditory canal...	ORPHA:79493
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o...	ORPHA:93323
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Cataract, Rhizomelia, Ventri...	ORPHA:93267
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Col...	ORPHA:453499
Giant Cell Arteritis	Gastrointestinal infarctions, Conductive hearing impairment, Abdominal aortic aneurysm, Alopecia,...	ORPHA:397
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Edema, Micrognathia, High palate, Arachnodactyly, Short stature, Hia...	OMIM:617729
X-Linked Intellectual Disability, Nascimento Type	Hypoplasia of the pons, Abnormal hair whorl, Deep philtrum, Synophrys, Downturned corners of mout...	ORPHA:163956
Blau Syndrome	Xerostomia, Large vessel vasculitis, Abnormal cranial nerve morphology, Abnormality of the liver,...	ORPHA:90340
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, Micrognathia,...	OMIM:619472
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Short stature, Abnormal thorax morphology, Small hand, Narr...	ORPHA:1445
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Short stature, Split hand, Vertebral segmentation defect, Foot polydactyly...	ORPHA:3004
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Yuan-Harel-Lupski Syndrome	Joint laxity, Thin upper lip vermilion, Wide nose, Sandal gap, Bicuspid aortic valve, Ventricular...	OMIM:616652
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, Premature rupture of membranes, High palate, M...	OMIM:278250
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect...	OMIM:249420
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Depressed nasal bridge, Thyroid defect in oxidation and orga...	ORPHA:95716
Joubert Syndrome With Renal Defect	Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Cerebellar vermis hypoplas...	ORPHA:220497
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia	OMIM:141000
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Severe short stature, Anteverted nares, Short neck, Hyperlordos...	ORPHA:1797
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, ...	OMIM:164210
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi...	ORPHA:217085
Adams-Oliver Syndrome 6	Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly...	OMIM:616589
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Micrognathia, Hepatic steatosis, Bifid uvula, Hepatomegaly, Short stature, Elevated...	OMIM:614921
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Congenit...	OMIM:601803
Phace Syndrome	Sclerocornea, Cerebral arteriovenous malformation, Lens coloboma, Abnormal sternum morphology, Ca...	ORPHA:42775
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi...	ORPHA:217093
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplas...	ORPHA:2092
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Flexion contrac...	OMIM:156530
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointe...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointe...	ORPHA:352665
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia	OMIM:137560
Trichohepatoenteric Syndrome 1	Villous atrophy, Brittle hair, Polyhydramnios, Depressed nasal ridge, Hepatic fibrosis, Sparse ha...	OMIM:222470
Meckel Syndrome, Type 4	Encephalocele, Atrial septal defect, Bowing of the long bones, Agenesis of cerebellar vermis, Ven...	OMIM:611134
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Anteverted nares, Broad hallux, Postaxial hand polydactyly, Duplica...	OMIM:617127
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Aplasia...	ORPHA:83471
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor...	ORPHA:860
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Alobar holoprosencephaly, Micrognathia, Gastroesophageal reflux, Aplasia o...	OMIM:301043
Fumarase Deficiency	Necrotizing enterocolitis, Bilateral fetal pyelectasis, Anteverted nares, Depressed nasal bridge,...	OMIM:606812
Branchiootorenal Syndrome 1	Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont...	OMIM:113650
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta...	ORPHA:50815
Hypertelorism-Microtia-Facial Clefting Syndrome	Severe short stature, Thenar muscle atrophy, Bifid nasal tip, Horseshoe kidney, Microtia, Atresia...	ORPHA:2213
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggre...	OMIM:155100
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Joint dislocation, Decreased muscle mass, Thoracic scoliosis, High, narrow palate, Ge...	ORPHA:1900
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Renal cyst, Coloboma, High pa...	OMIM:616975
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Micrognathia, Aminoaciduria, Hypoplasia of the thymus, Intrahepa...	OMIM:214110
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a...	ORPHA:264450
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hypoplasia of the pons, Coloboma, Hypoplasia of the brainstem, Megalocor...	ORPHA:370959
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Prominent nose, Abnormal pe...	ORPHA:480880
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Hypoplasia of the ulna, Short stature, Bicuspid aortic valve, Anemia of i...	OMIM:614900
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr...	ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should...	OMIM:606612
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Kbg Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Short neck, Epispadias, Synophrys, L...	OMIM:148050
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Gastr...	ORPHA:79345
Birk-Aharoni Syndrome	Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricular septal defect, Long nasal b...	OMIM:620071
Transaldolase Deficiency	Edema, Thrombocytopenia, Hydrops fetalis, Coarctation of aorta, Telangiectasia, Hepatosplenomegal...	ORPHA:101028
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio...	OMIM:607323
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Short neck, Cardiomegaly, Acc...	OMIM:245600
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Short metatarsal, High...	ORPHA:1772
Acalvaria	Omphalocele, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Abnormal lung lobation, Cle...	ORPHA:945
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ...	OMIM:231060
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Hydranencephaly, Short stature, Ventricular septal defect, Spina bi...	ORPHA:1393
Refractory Anemia	Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate...	ORPHA:98826
Mirage Syndrome	Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Microphallus, A...	OMIM:617053
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Hydrops fetalis...	OMIM:253220
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Gapo Syndrome	Mandibular prognathia, Abnormal clavicle morphology, Abnormal cerebral vascular morphology, Micro...	ORPHA:2067
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Meckel Syndrome	Ureteral duplication, Sclerocornea, Micrognathia, Asplenia, Depressed nasal ridge, Microcornea, U...	ORPHA:564
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Rhegmatogenous retinal detachment, Abnormality ...	ORPHA:485
Sweeney-Cox Syndrome	Uplifted earlobe, Polyhydramnios, Asplenia, Bilateral cryptorchidism, Micrognathia, Low anterior ...	OMIM:617746
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Polyhydramnios, Prominent nose, Long nose, Micrognathia, Clinodactyly of the ...	ORPHA:3047
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, An...	ORPHA:2554
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Short neck, Micrognat...	ORPHA:263508
Branchiootic Syndrome	Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma...	ORPHA:52429
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Inguinal hernia, Enlarged joints, Depressed nasal bridge, Short neck, Taper...	OMIM:607131
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal tricuspid valve morpholog...	ORPHA:580
Myofibrillar Myopathy 11	Decreased fetal movement, Centrally nucleated skeletal muscle fibers, Z-band streaming, Dysphagia...	OMIM:619178
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Pectus carinatum, Severe sensorineural hearing impair...	ORPHA:500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Coa...	ORPHA:83617
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s...	ORPHA:2363
Becker Nevus Syndrome	Hamartoma, Supernumerary nipple, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morpholog...	ORPHA:64755
Congenital Heart Block	Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Endocardial fibroelastosis, Intr...	ORPHA:60041
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Short neck, Neutropenia, Atrial septal def...	OMIM:609053
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Duplication Of The Pituitary Gland	Thoracic scoliosis, Polyhydramnios, Short neck, Abnormality of the cervical spine, Agenesis of co...	ORPHA:314621
Maternal Phenylketonuria	Anteverted nares, Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Eso...	ORPHA:2209
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Cerebrofaciothoracic Dysplasia	Cerebellar vermis hypoplasia, Polyhydramnios, Short neck, Synophrys, Hemivertebrae, Vertebral seg...	ORPHA:1394
Fraser Syndrome	Subglottic stenosis, Laryngeal stenosis, Hypoplasia of penis, Cleft ala nasi, Dental crowding, Ab...	ORPHA:2052
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Micrognathia, Pectus carinatum, Gastroesophageal reflux, Narrow chest, Hepatic...	OMIM:619525
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Short neck, Micrognathia, Knee flexion contract...	OMIM:601559
Joubert Syndrome 36	Anteverted nares, Mesoaxial hand polydactyly, Highly arched eyebrow, Sensorineural hearing impair...	OMIM:618763
Poland Syndrome	Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy...	OMIM:173800
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of...	OMIM:141400
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,...	OMIM:101200
Tarp Syndrome	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, Premat...	OMIM:311900
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Fetal akinesia ...	OMIM:312150
Trisomy 20P	Short neck, Micrognathia, Low anterior hairline, Abnormal form of the vertebral bodies, Protrudin...	ORPHA:261318
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Prominent nasal bridge, Corn...	ORPHA:2673
Hartsfield Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Depressed nasal bridge, Craniosynostosis, Non-m...	ORPHA:2117
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Townes-Brocks Syndrome 1	Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Triphalangeal thumb, Chorioretinal ...	OMIM:107480
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate, Cleft upper lip	OMIM:614402
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Epistaxis, Thrombocytopenia	ORPHA:721
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth horm...	ORPHA:95494
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, High, narrow palate, Lymphedema, Abno...	OMIM:163950
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl...	OMIM:314050
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Upper limb mus...	ORPHA:1435
Methimazole Embryofetopathy	Ventricular septal defect, Choanal atresia, Polyhydramnios, Hypospadias, Abnormality of the thyro...	ORPHA:1923
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial agenesis of the corpus c...	OMIM:617478
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit...	OMIM:618000
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi...	OMIM:609166
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of...	ORPHA:84
Thanatophoric Dysplasia	Polyhydramnios, Micromelia, Narrow chest, Atrial septal defect, Depressed nasal bridge, Abnormal ...	ORPHA:2655
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Short stature, Single transverse palmar crease, Muscular ventricular septal de...	OMIM:620062
Microphthalmia, Syndromic 5	Joint laxity, Ectopic posterior pituitary, Cataract, Short stature, Optic nerve hypoplasia, Retin...	OMIM:610125
Trisomy 1Q	Congenital diaphragmatic hernia, Polyhydramnios, Hydrops fetalis, Agenesis of corpus callosum, Mi...	ORPHA:261344
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Micrognathia, Abnormal left ventr...	OMIM:619991
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protru...	ORPHA:192
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Hypoplasia of the maxilla, Microdontia, Sparse hair, Absent eyebrow, Depress...	ORPHA:920
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hamartomatous polyposis, Hi...	OMIM:158350
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Recurrent fractures, Neoplasm of head and neck, Spinal cord compres...	ORPHA:319487
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Joubert Syndrome 10	Cerebellar vermis hypoplasia, Postaxial polydactyly, Deep philtrum, Wide nasal bridge, Growth del...	OMIM:300804
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Microdontia, Intrauterine growth retardation, Nephropathy, Nephrotic ran...	ORPHA:1830
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Conjunctivitis, Sparse hair, Agenesis of corpus callosum, Abnormal vertebral morphology, Absent e...	ORPHA:2273
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Low anterior hair...	OMIM:300232
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ...	OMIM:610829
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Premature birth, Short stature, Abnormality of the philtrum, Abnormality of th...	ORPHA:3268
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rhizomelia, Anterior rib cupping, Short stature, Splenomegaly, Proximal ...	OMIM:602271
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respir...	OMIM:619170
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Alopecia, Corneal opacity, Short stature, Kyphoscoliosis...	OMIM:163200
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Short neck, High palate, Clinodactyly of the 5th fin...	OMIM:612582
Focal Dermal Hypoplasia	Ureteral duplication, Cleft ala nasi, Congenital hip dislocation, Brittle hair, Congenital diaphr...	OMIM:305600
Bleeding Disorder, Platelet-Type, 20	Epistaxis, Thrombocytopenia	OMIM:616913
Scimitar Syndrome	Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, ...	ORPHA:185
Von Willebrand Disease, Type 2	Epistaxis, Thrombocytopenia	OMIM:613554
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan...	OMIM:600001
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Micrognathia, Cleft palate, Persi...	OMIM:300946
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Pyloric stenosis...	OMIM:133705
Fetal Parvovirus Syndrome	Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia	ORPHA:295
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Micrognat...	ORPHA:79474
Dextrocardia	Congenital hip dislocation, Abnormality of the spleen, Abnormal lung lobation, Pancreatic hypopla...	ORPHA:1666
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Short stature, Prominent nasal bridge, Abnormal mitral valve m...	ORPHA:1131
Tetrasomy 9P	Joint dislocation, Myositis, Glue ear, Dental crowding, Short neck, Micrognathia, Biliary atresia...	ORPHA:3310
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinod...	OMIM:200990
Renpenning Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Prominent nose, High, narrow palate, Short philtr...	ORPHA:3242
Tarp Syndrome	Extramedullary hematopoiesis, Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial...	ORPHA:2886
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hamartomatous polyposis, Hi...	OMIM:615108
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Polyhydramnios, Aplasia of the epiglottis, Narrow chest, Atrioventricular canal defect, Hepatomeg...	OMIM:617088
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Accelerated skeletal maturatio...	ORPHA:175
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i...	ORPHA:457395
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges...	OMIM:601356
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, High, narrow palate, Aminoacid...	OMIM:214100
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Decreased fetal movement, Prominence of the premaxilla, Short stat...	OMIM:614886
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Polyhydramnios, Micrognathia, Partial agenesis of the corpus callosum, Osteopath...	OMIM:300373
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasal alae, Short ne...	OMIM:617666
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hamartomatous polyposis, Hi...	OMIM:615109
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Atrioventricular canal defect, Left ventricular outflow tract obstruct...	OMIM:615779
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Fetal akinesia ...	OMIM:253290
Cohen Syndrome	Thoracic scoliosis, Bone spicule pigmentation of the retina, Decreased response to growth hormone...	OMIM:216550
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Rhabdomyoma, Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum...	OMIM:109400
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Atrioven...	ORPHA:581
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Brainstem dysplasia, Clinodactyly, Renal cyst, Hypoplasia of the br...	OMIM:213300
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hypoplasia of the maxilla, Fl...	OMIM:218000
Joubert Syndrome With Oculorenal Defect	Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Cerebellar vermis hypoplas...	ORPHA:2318
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa...	OMIM:208540
Williams Syndrome	Osteopenia, Periorbital edema, Abnormal form of the vertebral bodies, Protruding ear, Nephrocalci...	ORPHA:904
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig...	OMIM:618845
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Microphthalmia With Limb Anomalies	Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Abnormal form of the vertebral bod...	ORPHA:1106
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Underdev...	ORPHA:250999
Treacher-Collins Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis...	ORPHA:861
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Microgn...	ORPHA:628
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concentration, Atrial septal...	ORPHA:209905
Fibrochondrogenesis 1	Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi...	OMIM:228520
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal form of the vertebral bodies, Bilateral sin...	ORPHA:1597
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Orofacial cleft, Gastroes...	ORPHA:17
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocyto...	OMIM:607616
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Congenital diaphragmatic hernia, Synophrys, Low anterior hairline, Downturned co...	OMIM:301044
Xk Aprosencephaly Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Muscle-Eye-Brain Disease	Cataract, Hydrocephalus, Meningocele, Optic atrophy, Myopathy, Holoprosencephaly, Aplasia/Hypopla...	ORPHA:588
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest...	ORPHA:75564
Chops Syndrome	High, narrow palate, Synophrys, Downturned corners of mouth, Coarse hair, Gastroesophageal reflux...	OMIM:616368
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Polyhydramn...	OMIM:312870
Hadziselimovic Syndrome	Ventricular hypertrophy, Atrial septal defect, Posteriorly rotated ears, Anteverted nares, Promin...	OMIM:612946
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Apl...	ORPHA:3472
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
8P Inverted Duplication/Deletion Syndrome	Short neck, Micrognathia, High, narrow palate, Synophrys, Aplasia/Hypoplasia of the gallbladder, ...	ORPHA:96092
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Thoracic kyphoscoliosis...	ORPHA:313892
Joubert Syndrome 37	Hepatomegaly, Wide nose, Lumbar hyperlordosis, Anteverted nares, Posteriorly rotated ears, Postax...	OMIM:619185
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Low anterior hairline, Short philtrum, Ho...	ORPHA:1449
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, Renal cyst, H...	OMIM:614866
Alstrom Syndrome	Chronic active hepatitis, Decreased response to growth hormone stimulation test, Accelerated skel...	OMIM:203800
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Depressed nasal bridge, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating...	ORPHA:226313
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive hearing impai...	ORPHA:2010
Nanophthalmos	Microphthalmia	ORPHA:35612
Noonan Syndrome 9	Curly hair, Hydroureter, Short stature, Ventricular septal defect, Prominent corneal nerve fibers...	OMIM:616559
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Heterochromia iridis, ...	OMIM:609136
Meckel Syndrome, Type 2	Encephalocele, Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly...	OMIM:603194
Meckel Syndrome 14	Occipital encephalocele, Short neck, Micrognathia, Hepatic fibrosis, Holoprosencephaly, Single ve...	OMIM:619879
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Micrognathia, Enlarged ...	ORPHA:251071
Coxoauricular Syndrome	Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi...	ORPHA:1508
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti...	ORPHA:666
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Ureteral duplication, Adrenal hypoplasia, Polyhydramnios, ...	OMIM:275210
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Abnormality of the dentition, Clinodactyly of the 5th finger, Atresia of the external auditory ca...	OMIM:221320
Bohring-Opitz Syndrome	Joint dislocation, Polyhydramnios, Micrognathia, Flexion contracture, Low anterior hairline, Hypo...	OMIM:605039
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Short lingual frenulum, Bilateral cryptorchidism, Pulmonary artery hypoplasia, Microp...	ORPHA:2326
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures, Neoplasm of head and neck, Chronic noninfectious lymphadenopathy, Breast car...	ORPHA:97290
Alagille Syndrome	Corneal dystrophy, Micrognathia, Long nose, Abnormal pupil morphology, Abnormal form of the verte...	ORPHA:52
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Ear pain, Cranial nerve compression, Odynophagia, Jaw claudication, Sc...	ORPHA:221098
Bohring-Opitz Syndrome	Joint dislocation, Cardiomegaly, Micrognathia, Synophrys, Coloboma, Congenital contracture, Agene...	ORPHA:97297
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Corneal opacity, Short stature, Narrow mouth, Abnormal form of...	ORPHA:2370
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Frontometaphyseal Dysplasia 2	Subglottic stenosis, Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, El...	OMIM:617137
Hb Bart'S Hydrops Fetalis	Pericarditis, Polyhydramnios, Hydrops fetalis, Pallor, Oligohydramnios	ORPHA:163596
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Protruding ear, Hypoplasi...	ORPHA:464306
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Subglottic stenosis, Asplenia, Left superior vena cava draining directly to the left atrium, Dext...	OMIM:619657
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta...	OMIM:182212
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv...	OMIM:156550
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Sandal gap, Congenital diap...	OMIM:300887
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Polyhydramnios, Synophrys, Downturned corners of mouth, Coarse hair, High palate...	OMIM:618268
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Autosomal Dominant Progressive External Ophthalmoplegia	Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Abnormality of the liver, Gastroesop...	ORPHA:254892
Contractures-Developmental Delay-Pierre Robin Syndrome	Micrognathia, High, narrow palate, Abnormal finger morphology, Chiari type I malformation, Glosso...	ORPHA:436003
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Short fourth metatarsa...	OMIM:619841
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Chondrodysplasia, Blomstrand Type	Premature birth, Depressed nasal bridge, Fetal ascites, Polyhydramnios, Micromelia, Accelerated s...	OMIM:215045
Mucopolysaccharidosis Type 1	Joint dislocation, Sinusitis, Low anterior hairline, Abnormal form of the vertebral bodies, Enlar...	ORPHA:579
Atelosteogenesis, Type I	Laryngeal stenosis, Polyhydramnios, Short neck, Micrognathia, Short metatarsal, Tibial bowing, Kn...	OMIM:108720
Cantu Syndrome	Bicuspid aortic valve, Short neck, Cardiomegaly, Lymphedema, Metaphyseal widening, Narrow chest, ...	OMIM:239850
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, Microvesicular hepatic steatos...	OMIM:220111
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Polyhydramnios, Short neck, Micromelia, Micrognathia, Low anterior hairl...	ORPHA:800
Feingold Syndrome Type 1	Micrognathia, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Conductive ...	ORPHA:391641
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Median cleft lip, Anteverted nares, Ventricular septal defe...	OMIM:619895
Ulnar-Mammary Syndrome	Deformed radius, Subglottic stenosis, Ectopic posterior pituitary, Anterior pituitary hypoplasia,...	OMIM:181450
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Long nose, Hypoplasia of ...	OMIM:309520
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Micrognathia, Flexion contracture, Downturned corners ...	OMIM:264090
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Coloboma, Vertebral segmentation defect, Triphalangeal thumb,...	ORPHA:959
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Single transverse palmar crease, Polyhydramnios, Flexion contracture, Wrist flexion contracture, ...	ORPHA:254528
Martsolf Syndrome 1	Enlarged sylvian cistern, Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathi...	OMIM:212720
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Recurrent pneumonia, Dehydration, Coarctation of aorta, Hypertension, Long eyelas...	OMIM:616069
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Renal cyst, Protruding ear, Gastroesophageal reflux, Micropenis, Pelvic kidney, A...	ORPHA:464311
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus...	OMIM:178110
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Short neck, Cardiomegaly, Delayed epiphyseal ossification, Deep philtrum, Narrow ches...	OMIM:613320
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Subglottic stenosis, Decreased response to growth hormone stimulation test, Micrognathia, Synophr...	ORPHA:444077
Kagami-Ogata Syndrome	Polyhydramnios, Short neck, Micrognathia, Hepatoblastoma, Frontal hirsutism, Pursed lips, Depress...	ORPHA:254519
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Single transverse pa...	OMIM:229850
Mmep Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:3434
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Cataract, Depressed nasal bridge, Hypogonadotropic hypogonadis...	ORPHA:1387
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Giant platelets, Macrothrombocytopenia,...	OMIM:231200
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Recurrent respiratory infections, Severe short stature, Block verteb...	OMIM:277300
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestiv...	ORPHA:49827
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Proximal placement of thumb, Long nose, Partial agenesis of the corpus callosum, Synophrys, High ...	OMIM:620113
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Acitretin/Etretinate Embryopathy	Micrognathia, Conotruncal defect, Hypoplastic nasal septum, Hypoplasia of the thymus, High palate...	ORPHA:40366
Bilateral Polymicrogyria	Cerebellar atrophy, Micrognathia, Sensorineural hearing impairment, Abnormality of masticatory mu...	ORPHA:268940
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Protruding ear, Tibial bowing, Pectus carinatum, Reduced bone mineral dens...	ORPHA:93315
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st...	OMIM:129900
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormal pinna morphology, Depressed nasal bridge, Anteverted nares, Shor...	ORPHA:75389
Thrombocytopenia 5	Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N...	OMIM:616216
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Osteopenia, Mandibular prognathia, Thickened ribs, Short neck, Pectu...	ORPHA:309282
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Bone pain, Low anterior ...	ORPHA:955
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora...	OMIM:304120
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati...	OMIM:301080
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Ileal atresia, Micrognathia, Protruding ear, Holoprosencephaly, Microp...	OMIM:618820
Frontometaphyseal Dysplasia	Subglottic stenosis, Single transverse palmar crease, Limited elbow movement, Micrognathia, Metap...	ORPHA:1826
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Short neck, Downturned corners of mouth, Short palm, Clinodactyl...	ORPHA:1001
Gm1 Gangliosidosis Type 1	Spatulate ribs, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies, Aspiration pneum...	ORPHA:79255
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ...	ORPHA:699
Joubert Syndrome 2	Brainstem dysplasia, Renal cyst, Hypoplasia of the brainstem, High palate, Chorioretinal coloboma...	OMIM:608091
Mosaic Variegated Aneuploidy Syndrome 1	Short neck, Micrognathia, Renal cyst, Atrial septal defect, Micropenis, Agenesis of corpus callos...	OMIM:257300
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Arachnodactyly,...	ORPHA:377
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Secundum atrial septal defect, Sensorineural hearing impairment, Elevate...	OMIM:614300
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Short 3rd toe, Tapered finger, Dysplastic corpus callosum, Short thumb, Split hand, Mus...	OMIM:618569
Melkersson-Rosenthal Syndrome	Facial edema, Facial palsy, Furrowed tongue	OMIM:155900
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Camptodactyly of finger...	ORPHA:1703
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Tick-Borne Encephalitis	Back pain, Skeletal muscle atrophy, Stiff neck, Leukopenia, Tongue fasciculations, Abnormal medul...	ORPHA:297
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Inguinal hernia, Portal hypertension, Pancreatic cysts, Situs inver...	OMIM:267010
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibro...	OMIM:208500
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle, Abnormal pinna morphology, Ventricular septal defect, Coarctation of ao...	ORPHA:261183
Nanophthalmos 4	Microphthalmia	OMIM:615972
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Short neck, Micrognathia, Anteriorly placed anus, Downturned corners of ...	OMIM:616894
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal nerve conduction v...	ORPHA:93473
Holoprosencephaly 11	Cleft lip, Synophrys, Cleft palate, Holoprosencephaly, Polysplenia, Agenesis of corpus callosum, ...	OMIM:614226
Kagami-Ogata Syndrome	Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Atrial septal defec...	OMIM:608149
Deafness, X-Linked 7	Posteriorly rotated ears, Wide nasal bridge, Atresia of the external auditory canal, Stenosis of ...	OMIM:301018
Congenital Sialidosis Type 2	Edema, Yellow/white lesions of the retina, Cherry red spot of the macula, Hypoplasia of the fovea...	ORPHA:93400
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, Hypopla...	OMIM:612289
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Polyhydramnios, Short neck, S...	OMIM:261540
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Hearing impairment, Situs inversus totalis, Bronchiectasis, Right aortic arch, Chro...	OMIM:617577
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost...	OMIM:251450
Kimura Disease	Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia	ORPHA:482
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Gastroesoph...	OMIM:616580
Shashi-Pena Syndrome	Accelerated skeletal maturation, Synophrys, Atrial septal defect, Short metacarpal, Highly arched...	OMIM:617190
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Duane Retraction Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypop...	ORPHA:233
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Talipes equinovarus, Ventricular septal defect, Atresia of the external auditory canal	OMIM:209770
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Left axis deviation, Pectus excavatum, Arteri...	OMIM:620294
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Maffucci Syndrome	Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Short stature, Recurrent fr...	ORPHA:163634
Meckel Syndrome, Type 3	Hepatomegaly, Occipital encephalocele, Multicystic kidney dysplasia, Malformation of the hepatic ...	OMIM:607361
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Underdeveloped nasal alae, Shor...	OMIM:616549
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Ab...	OMIM:614175
1Q21.1 Microdeletion Syndrome	High palate, Clinodactyly of the 5th finger, Vesicoureteral reflux, Agenesis of corpus callosum, ...	ORPHA:250989
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile...	ORPHA:731
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Polyhydramnios, Car...	ORPHA:116
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb...	ORPHA:90308
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Abnormal lung morph...	ORPHA:439167
Steinfeld Syndrome	Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morph...	OMIM:184705
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Secundum atrial septal defect, Neonatal omphalitis, Oral ulcer, ...	OMIM:612541
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios	ORPHA:2189
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi...	ORPHA:231580
Cerebrotendinous Xanthomatosis	Osteopenia, Precocious atherosclerosis, Abnormal tibia morphology, Abnormal lung morphology, Abno...	ORPHA:909
De Barsy Syndrome	Osteopenia, Decreased muscle mass, Congenital hip dislocation, Cerebellar vermis hypoplasia, Gene...	ORPHA:2962
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon...	OMIM:242900
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Micromelia, Abnormal form of the vertebral bodies, Long ...	ORPHA:2635
Orofaciodigital Syndrome V	Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamartoma of tongue, Opt...	OMIM:174300
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the seventh cranial nerve, Upper limb muscle weakness, Aspiration pneumonia, Dysph...	ORPHA:90117
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Sensorineural hearing impairment, Abnormal salivary gland morphology	ORPHA:3225
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop...	OMIM:308050
Optic Atrophy 1	Pallor	OMIM:165500
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Polyhydramnios, Micrognathia, Abnormal lung lobation, Orofacial cleft, Mic...	ORPHA:3301
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, Hepatic fibrosis, High palate, Sparse hair, Agenesis of corpus callos...	OMIM:311200
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Cerebellar atrophy, Chorioretinal hyperpigmentation, Sensorineural...	OMIM:618329
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Gracile Bone Dysplasia	Short stature, Asplenia, Hydrocephalus, Flared metaphysis, Thin ribs, Micropenis, Slender long bo...	OMIM:602361
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h...	OMIM:256050
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Down Syndrome	Short neck, Depressed nasal ridge, Downturned corners of mouth, Clinodactyly of the 5th finger, C...	ORPHA:870
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Micrognathia, Flexion contracture, Glossoptosis, Hypoplasia of the brain...	OMIM:254940
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Depressed nasal bridge, Short stature, Optic atrophy, Wide nasal bridg...	ORPHA:1513
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Short palm, Toe syndactyly, Posteriorly rotated ears...	OMIM:618958
Mulibrey Nanism	Dental crowding, Single transverse palmar crease, Corneal dystrophy, Cardiomegaly, Absent frontal...	OMIM:253250
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Cheilitis Glandularis	Neoplasm, Abnormal salivary gland morphology, Thick lower lip vermilion, Squamous cell carcinoma	ORPHA:1221
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Macular coloboma, Facial palsy, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch	OMIM:107550
Intellectual Developmental Disorder, Autosomal Dominant 52	Prominent nose, Bilateral cryptorchidism, Synophrys, Low anterior hairline, Pectus carinatum, Dow...	OMIM:617796
Proteus Syndrome	Depressed nasal bridge, Kyphoscoliosis, Spinal cord compression, Splenomegaly, Facial hyperostosi...	OMIM:176920
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,...	ORPHA:90650
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Microm...	OMIM:616546
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Polyhydramnios, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing mo...	ORPHA:1427
Coffin-Siris Syndrome 1	Dry hair, Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Ectopi...	OMIM:135900
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Craniosynostosis 4	Ectopic posterior pituitary, Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynos...	OMIM:600775
Autosomal Dominant Cutis Laxa	Osteopenia, Genu recurvatum, Protruding ear, Abnormal curvature of the vertebral column, Emphysem...	ORPHA:90348
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Abnormality of infra-orbital nerve, Periorbital edema, Abnormal lung morp...	ORPHA:449563
Pierre Robin Syndrome	Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis	OMIM:261800
Degcags Syndrome	Osteopenia, Polyhydramnios, Prominent nose, Oral-pharyngeal dysphagia, Pancytopenia, Micrognathia...	OMIM:619488
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finge...	ORPHA:2754
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Atrial septal defect, Cerebellar vermis hypoplasia, Anteverted ...	OMIM:608629
Frontometaphyseal Dysplasia 1	Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Abs...	OMIM:305620
Mccune-Albright Syndrome	Accelerated skeletal maturation, Bone pain, Abnormal femur morphology, Gastroesophageal reflux, B...	ORPHA:562
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect...	OMIM:113000
Warburg-Cinotti Syndrome	Dental crowding, High palate, Conductive hearing impairment, Wrist flexion contracture, Symblepha...	OMIM:618175
Microhydranencephaly, X-Linked	Decreased fetal movement, Multiple joint contractures, Fetal akinesia sequence, Holoprosencephaly...	OMIM:306990
Pallister-Hall-Like Syndrome	Occipital encephalocele, Micromelia, Micrognathia, Chiari type I malformation, Micropenis, Depres...	OMIM:241800
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Short stature, Anteverted nares, Corneal opacity, Abnormal cerebell...	ORPHA:1532
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Proboscis Lateralis	Single naris, Orofacial cleft, Microcornea, Abnormality of the maxillary sinus, High palate, Holo...	ORPHA:141099
Orofaciodigital Syndrome Type 14	Short neck, Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus callosum, Aplasi...	ORPHA:434179
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Uplifted earlobe, Pectus carinatum, ...	OMIM:616449
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormality of the spleen, Anorectal a...	ORPHA:1834
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, High palate, Gastroesophageal reflux, Emphysema, Hepati...	OMIM:613658
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Santos Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu...	OMIM:613005
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Lymphedema, Periorbital edema, Ectopic kidney, Rectal prolapse...	OMIM:235510
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal...	ORPHA:485405
Moebius Syndrome	Abnormal nasopharynx morphology, Short neck, Micrognathia, Congenital fibrosis of extraocular mus...	OMIM:157900
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Atresia of the extern...	ORPHA:3023
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Choroidal neovascularization, Adrenal calcification, Poly...	ORPHA:51608
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Renal cyst, Vertebral segmentation defect, Clinodactyly ...	OMIM:272460
Orofaciodigital Syndrome Type 10	Short neck, Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Single transverse palmar crease, Adrenal hypoplasia, Morgagni diaphragmatic hernia, M...	OMIM:613177
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st...	OMIM:604292
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Short neck, Micrognathia, Tracheobroncho...	OMIM:613458
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, ...	ORPHA:556955
Distal Duplication 14Q	Short stature, Patent ductus arteriosus, Abnormal lung lobation, Abnormal aortic morphology, Hear...	ORPHA:1705
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ...	ORPHA:166011
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia	ORPHA:141179
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima...	OMIM:615830
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Premature birth, Abnorm...	ORPHA:2165
Atelosteogenesis Type I	Joint dislocation, Laryngeal stenosis, Polyhydramnios, Micrognathia, Narrow chest, Absent or mini...	ORPHA:1190
Hyperaldosteronism, Familial, Type Iii	Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Pycnodysostosis	Abnormal clavicle morphology, Persistent open anterior fontanelle, Obtuse angle of mandible, Decr...	ORPHA:763
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Stromme Syndrome	Cerebellar vermis hypoplasia, Sclerocornea, Micrognathia, Bilateral renal hypoplasia, Preaxial po...	OMIM:243605
Encephalocraniocutaneous Lipomatosis	Multiple lipomas, Capillary hemangioma, Agenesis of corpus callosum, Iris coloboma, Alopecia, Abn...	ORPHA:2396
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida	ORPHA:1104
Barber-Say Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal pinna morphology, Bulbous nose, Wide nasal ...	ORPHA:1231
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia	OMIM:613101
Thanatophoric Dysplasia Type 1	Polyhydramnios, Micromelia, Femoral bowing, Narrow chest, Atrial septal defect, Depressed nasal b...	ORPHA:1860
Pituitary Stalk Interruption Syndrome	Septo-optic dysplasia, Ectopic posterior pituitary, Short stature, Hypoplasia of penis, Adrenal h...	ORPHA:95496
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Micrognathia, Urethral stenosis, Depressed nasal ridge, Cle...	ORPHA:1727
Juvenile Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Generalized hypertri...	ORPHA:93399
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth...	OMIM:147250
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Vissers-Bodmer Syndrome	Premature birth, Short stature, Tapered finger, Holoprosencephaly, Intrauterine growth retardation	OMIM:619033
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Premature gray...	ORPHA:895
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl...	OMIM:101800
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Lymphocytoma cutis, Pedal edema, Sterile pyuria, Tubuloi...	ORPHA:449395
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment...	ORPHA:3232
Stormorken Syndrome	Short stature, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asplenia, Howell-Jolly bodies,...	OMIM:185070
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue...	OMIM:601596
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Posteriorly rotated ea...	OMIM:619476
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Premature birth, Abnormality of the pancreas, Jaundice, Abnormal p...	ORPHA:69665
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Oligodactyly	OMIM:614416
Atelosteogenesis Type Ii	Laryngeal stenosis, Cervical kyphosis, Polyhydramnios, Short neck, Micromelia, Micrognathia, Trac...	ORPHA:56304
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat...	OMIM:618150
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Short stature, Abnormal dental morphology, Hypospadias, Hyperlordos...	ORPHA:2522
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft,...	ORPHA:221120
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Congenital diaphragmatic hernia, Short n...	ORPHA:96121
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Trident pelvis, Short lingual frenulum, Flexion contracture, Widely spaced teeth, Narrow chest, M...	OMIM:619479
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Noonan Syndrome 12	11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st...	OMIM:618624
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Inflammation of the large intestine, Emphysema, Abnormal salivary gl...	OMIM:181000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Pediatric-Onset Graves Disease	Accelerated skeletal maturation, Thyrotoxicosis with diffuse goiter, Increased circulating T4 con...	ORPHA:525731
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Disp...	OMIM:608681
Meacham Syndrome	Bicuspid aortic valve, Atrial septal defect, Scimitar anomaly, Diaphragmatic eventration, Neonata...	OMIM:608978
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ...	OMIM:601612
Distal Deletion 12Q	Single transverse palmar crease, Short neck, Micrognathia, High, narrow palate, Ectopic kidney, B...	ORPHA:96149
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Micrognathia, Oligosacchariduria, Downturned corners of mouth, High palate, Thoracic ...	ORPHA:163649
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypoplasi...	OMIM:619306
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Delayed cranial suture closu...	ORPHA:90674
Ritscher-Schinzel Syndrome 2	Pulmonary artery hypoplasia, High palate, Short philtrum, Atrial septal defect, Clinodactyly of t...	OMIM:300963
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Amoebiasis Due To Free-Living Amoebae	Stiff neck, Sinusitis, Corneal perforation, Conjunctival hyperemia, Abnormal medulla oblongata mo...	ORPHA:68
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General...	ORPHA:2790
Giant Axonal Neuropathy	Facial palsy, Abnormal hand morphology, Abnormal cerebellum morphology, Abnormal pituitary gland ...	ORPHA:643
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Gastroesophageal reflux...	OMIM:613604
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Pontine Tegmental Cap Dysplasia	Pontine tegmental cap, Facial palsy, Sensorineural hearing impairment, Hemivertebrae, Rib fusion,...	OMIM:614688
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Chorioretinal dysplasia, Micrognathi...	ORPHA:534
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac...	OMIM:217085
Bosma Arhinia Microphthalmia Syndrome	Absent tragus, Synophrys, Coloboma, High palate, Aplasia of the nose, Conductive hearing impairme...	OMIM:603457
Codas Syndrome	Congenital hip dislocation, Abnormal form of the vertebral bodies, Short metacarpal, Depressed na...	ORPHA:1458
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Prominent vei...	ORPHA:536532
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Thyrocerebrorenal Syndrome	Euthyroid goiter, Thrombocytopenia	ORPHA:3327
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Short stature, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, An...	OMIM:230650
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T...	OMIM:598500
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte...	OMIM:270100
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Atrial septal defect, Vesicoureteral r...	ORPHA:2970
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Short metatarsal, High palate, Thickened helices, Broad ribs, Broad me...	OMIM:608328
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Omphalocele, Short sta...	ORPHA:991
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Craniofacial hyperostosis, Hypoplasia of penis, Abnormal pinna morpholog...	ORPHA:3068
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Preeclampsia	Elevated diastolic blood pressure, Polycystic ovaries, Hypertension, Elevated systolic blood pres...	ORPHA:275555
Mungan Syndrome	Barrett esophagus, Tricuspid regurgitation, Intestinal pseudo-obstruction, Hypoperistalsis, Renal...	OMIM:611376
Spondylometaphyseal Dysplasia, Type A4	Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar...	OMIM:609052
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	High palate, Conductive hearing impairment, Neonatal death, Agenesis of corpus callosum, Absent g...	OMIM:618500
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Myocardial infarction, Microangiopathic hemolytic anemia, Arrhythmia, Thrombocyt...	ORPHA:54057
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Polyhydramnios, Limited elbow movement, Long nose, Increased intervertebral space, Micrognathia, ...	ORPHA:508533
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
2Q31.1 Microdeletion Syndrome	Short neck, Micrognathia, Abnormal tibia morphology, Deep philtrum, Synophrys, Low anterior hairl...	ORPHA:251014
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar...	OMIM:612394
Congenital Toxoplasmosis	Microphthalmia, Intrauterine growth retardation, Ascites, Cardiomegaly	ORPHA:858
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Renal cys...	OMIM:113620
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Ventricular septal defect, Protruding tongue, Short neck, Cryptorchidism, Hydro...	OMIM:612938
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Chronic pancreatit...	ORPHA:98908
Iniencephaly	Congenital diaphragmatic hernia, Polyhydramnios, Orofacial cleft, Holoprosencephaly, Dandy-Walker...	ORPHA:63259
Breath-Holding Spells	Pallor	OMIM:607578
Diaphanospondylodysostosis	Short neck, Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar...	ORPHA:66637
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Cranial...	ORPHA:652
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism, Limited elbow extension, Holoprosencephaly, Tapered finger	OMIM:300706
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Aural Atresia, Congenital	Hyposmia, Conductive hearing impairment, Atresia of the external auditory canal	OMIM:607842
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Polyhydramnios, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebe...	OMIM:617967
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus...	OMIM:600460
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Brittle hair, Micrognathia, Abnormality of t...	ORPHA:2710
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Laryngeal stenosis, Micrognathia, Aplasia of the pectoralis major muscle...	ORPHA:1358
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:369929
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Hypergonadotropic hypogonadism, Heterochromia iridis, Abnormality of the middle...	ORPHA:90646
Feingold Syndrome 1	Polyhydramnios, Micrognathia, Asplenia, High palate, Accessory spleen, Anteverted nares, Esophage...	OMIM:164280
You-Hoover-Fong Syndrome	Brachydactyly, Kyphoscoliosis, Accessory oral frenulum, Pectus excavatum, Cleft palate, Vascular ...	OMIM:616954
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wr...	ORPHA:481152
Neurofibroma	Facial neoplasm, Multiple intestinal neurofibromatosis, Intestinal bleeding, Palmar neurofibroma,...	ORPHA:252183
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Short neck, Webbed neck, Thoracic kyphosis, Thickened he...	ORPHA:85194
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Short stature, Micro...	ORPHA:166272
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e...	OMIM:300534
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Ascher Syndrome	Wide nose, Upper eyelid edema, Deviation of finger, Abnormal upper lip morphology, High palate, H...	ORPHA:1253
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Pallor	OMIM:613561
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Holoprosencephaly 2	Aplasia of the nasal bone, Adrenal hypoplasia, Alobar holoprosencephaly, Holoprosencephaly, Chori...	OMIM:157170
Arterial Tortuosity Syndrome	Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Pe...	OMIM:208050
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Single transverse palmar crease, Triangular shaped distal phalanx of the thumb, Upper limb muscle...	ORPHA:370010
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Stage 5...	OMIM:610688
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c...	OMIM:305400
Recombinant 8 Syndrome	Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Atrial septal defect, Cli...	ORPHA:96167
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Clinodact...	ORPHA:3082
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia	ORPHA:141184
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Chromosome 14Q11-Q22 Deletion Syndrome	Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchidism, Elevated circulating thyro...	OMIM:613457
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Coloboma, Hi...	OMIM:268300
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Short neck, Bilateral cryptorchidism, High palate, Agenesis of corpus callosum, Bifid uvula, Iris...	OMIM:300472
Microcephaly-Capillary Malformation Syndrome	Wide nose, Brachydactyly, Short stature, Ventricular septal defect, Hearing impairment, Hypoplasi...	OMIM:614261
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, C...	OMIM:234100
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Subglottic stenosis, ...	ORPHA:93357
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Polyhydramnios, Amniotic constriction r...	ORPHA:2215
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Cryptorchidism...	OMIM:249270
Gabriele-De Vries Syndrome	Micrognathia, High palate, Finger joint hypermobility, Patent foramen ovale, Simple ear, Sparse e...	OMIM:617557
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Double outlet right ventricle, Bronchiectasis, Recurrent otitis media, Recurrent lo...	OMIM:618254
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow pa...	ORPHA:2462
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Retinal telangiectasia, ...	OMIM:158900
Thakker-Donnai Syndrome	Communicating hydrocephalus, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Downturn...	ORPHA:1780
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Premature birth, Protruding tongue, Coxa valga, Splenomegaly, Patent ductus arterio...	OMIM:230600
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Leukocytosis, Cerebral edema, Anterior open-bite malocclusion, Abnormal auto...	ORPHA:83601
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Cleft upper lip, Hydrocephalus, Postaxial hand polyd...	OMIM:612284
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia	OMIM:615750
Slc35A1-Cdg	Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage	ORPHA:238459
Thyroid Dyshormonogenesis 1	Growth delay, Macroglossia, Umbilical hernia, Hypothyroidism, Goiter	OMIM:274400
Proteus Syndrome	Decreased muscle mass, Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Lymphed...	ORPHA:744
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Protruding e...	OMIM:618619
Fetal Trimethadione Syndrome	Atrial septal defect, Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathi...	ORPHA:1913
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthis...	OMIM:184260
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Short neck, Cleft upper lip, Vesicoureteral ...	OMIM:244600
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Depressed ...	OMIM:108300
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Low anterior hairline, Abnormal form of the vertebral bodies, Triphala...	ORPHA:794
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Trisomy 10P	Decreased muscle mass, Micrognathia, Hemivertebrae, Abnormality of the ear, Orofacial cleft, High...	ORPHA:171929
Lujan-Fryns Syndrome	Atrial septal defect, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Dental cro...	ORPHA:776
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate...	ORPHA:3320
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous nose, Wide mouth, Macroglossia, Colob...	OMIM:616789
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Epilepsy, Progressive Myoclonic, 9	Short thumb, Generalized amyotrophy, Scoliosis, Microglossia, Agenesis of corpus callosum, Ventri...	OMIM:616540
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Congenital...	ORPHA:887
Whistling Face Syndrome, Recessive Form	Inguinal hernia, Shoulder flexion contracture, Prominent nasal bridge, Underdeveloped nasal alae,...	OMIM:277720
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Micrognathia, Flexion contracture, Irregular vertebral endplates, High palate, Depres...	OMIM:222765
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93924
Stickler Syndrome Type 1	Retinal detachment, Cataract, Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoa...	ORPHA:90653
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nose, Accelerated skeletal maturation, Micrognathia, Hypoplasia ...	ORPHA:439822
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S...	OMIM:602347
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Metaphyseal widening, Craniofacial osteosclerosis, Pectus carinatum, ...	OMIM:618476
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Reduced bone mineral density, Lobulated tongue, Coarse hair, High pal...	ORPHA:2750
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ...	OMIM:184460
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Coffin-Siris Syndrome	Clinodactyly, Low anterior hairline, Papillary thyroid carcinoma, Aspiration pneumonia, Hepatobla...	ORPHA:1465
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Congenital muscular torticollis, Hemivertebrae, Abnormal form of the verte...	ORPHA:2916
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Abnormal sacrum morphology, Optic atro...	ORPHA:207
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Depressed nasal b...	OMIM:313420
Mosaic Trisomy 8	Short neck, Micrognathia, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches...	ORPHA:96061
Anauxetic Dysplasia 3	Femoral bowing, Oligodontia, Gastroesophageal reflux, Narrow chest, Trident hand, Short metacarpa...	OMIM:618853
Coffin-Siris Syndrome 4	Prominent interphalangeal joints, Short philtrum, Atrial septal defect, Pulmonary artery atresia,...	OMIM:614609
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno...	OMIM:607626
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Protruding ear, Femoral bowing, Pectus carinatum, Enlarged thorax, Reduc...	OMIM:614856
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Abnormal pinna morphology, Prominent nasal bridge, Choanal atresia, Short neck, Pectus excavatum,...	ORPHA:52055
Syndromic Diarrhea	Villous atrophy, Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hepatic ...	ORPHA:84064
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Pulmonary arterial hypertension, Thrombocytopenia	OMIM:619751
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon...	ORPHA:95715
Anaplastic Thyroid Carcinoma	Neoplasm of the skeletal system, Laryngotracheal stenosis, Tracheoesophageal fistula, Abnormal sk...	ORPHA:142
Culler-Jones Syndrome	Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Postaxial polydactyly,...	OMIM:615849
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill...	OMIM:601812
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm...	ORPHA:3097
Ververi-Brady Syndrome	Smooth philtrum, Thin upper lip vermilion, Wide nose, Short stature, Broad nasal tip, Prominent n...	OMIM:617982
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the maxilla, Hydrocephalus, ...	ORPHA:93262
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Broad hallux phalanx, Atrial septal defect, Depressed nasal bridg...	ORPHA:261295
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Goiter, Elevated circulating thyr...	OMIM:274300
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Orofacial cleft, Chorioretinal coloboma, A...	ORPHA:1454
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Ventricular septal defect, Recu...	ORPHA:2772
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Thyrocerebroretinal Syndrome	Thrombocytopenia, Goiter	OMIM:274240
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor...	OMIM:601399
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Abnormal cerebral vascular morphology, Increa...	ORPHA:2616
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Intrauterine growth retardation	OMIM:616171
Schneckenbecken Dysplasia	Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro...	OMIM:269250
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Posteriorly rotated...	ORPHA:163961
Frontorhiny	Hypoplasia of the maxilla, Finger clinodactyly, Basal encephalocele, Iris coloboma, Low-set, post...	ORPHA:391474
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Low anterior hairline, Protruding ear, High palate, Gastroesophageal ref...	OMIM:619325
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Accelerated skeletal maturation, Gastroint...	ORPHA:293987
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Brachydactyly, Short stature, Micromelia, Craniosynostosis, Micrognathia, Abno...	ORPHA:2145
Monosomy 9Q22.3	Short neck, Palmar pits, Accelerated skeletal maturation, Cardiac fibroma, Orofacial cleft, Odont...	ORPHA:77301
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Retroperitoneal fibrosis, Facial edema, Enlarged lacrimal glands, Thyr...	ORPHA:79078
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Papilledema, Hepatosplenomeg...	ORPHA:2072
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Narrow nasal bridge, Irregularity of vertebral bodies, Overhanging nasal tip, Cataract, Short sta...	ORPHA:85172
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Short metatarsal, Abnormal hip joint morphology, Arthralgia of the hip, Hypoplasia of the ulna, B...	ORPHA:1856
Wolcott-Rallison Syndrome	Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Dehydration, Iron deficiency...	ORPHA:1667
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Bowing of the legs, Pectus carinatum, Hypo...	ORPHA:1855
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Chronic gastritis, Mandibular prognathia, Mild postnatal growth retardation, Single t...	OMIM:150230
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Thrombocytopenia	OMIM:619151
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Short stature, Prominent nose, Short neck, High, narro...	OMIM:617926
Distal Xq28 Microduplication Syndrome	Short stature, Epistaxis, Short lingual frenulum, Broad nasal tip, Metatarsus adductus, Patent fo...	ORPHA:293939
Cantú Syndrome	Short neck, Cardiomegaly, Accelerated skeletal maturation, Low anterior hairline, Narrow chest, B...	ORPHA:1517
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Syndactyly, Antever...	OMIM:227330
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Lamb-Shaffer Syndrome	Mild postnatal growth retardation, Broad nasal tip, Micrognathia, Optic atrophy, Fused cervical v...	ORPHA:530983
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sin...	OMIM:613443
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, Renal cyst, High palate,...	OMIM:102500
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Long thorax, Absent nasal ...	OMIM:617925
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Posteriorly rotated ears, Choanal atresia, Aplasia/Hypoplasia o...	ORPHA:2759
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign...	ORPHA:79139
Craniofacioskeletal Syndrome	Micrognathia, Short philtrum, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, B...	OMIM:300712
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Synophrys...	OMIM:619475
Treacher Collins Syndrome 1	Sparse lower eyelashes, Choanal atresia, Cleft soft palate, Micrognathia, Cryptorchidism, Cleft p...	OMIM:154500
Hemoglobin D Disease	Pallor	ORPHA:90039
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the ma...	ORPHA:314679
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca...	ORPHA:1587
Hartsfield Syndrome	Syndactyly, Wide nose, Median cleft lip, Posteriorly rotated ears, Diabetes insipidus, Craniosyno...	OMIM:615465
Pyle Disease	Delayed eruption of teeth, Metaphyseal dysplasia, Mandibular prognathia, Persistence of primary t...	OMIM:265900
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Micrognathia, Metaphyseal chondrodysplasia, Renal cyst, Chiari type I malformation, Broad columel...	ORPHA:166035
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop...	ORPHA:398124
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Horner syndro...	OMIM:141300
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:3107
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine...	OMIM:613759
Hypothyroidism Due To Tsh Receptor Mutations	Edema, Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-sti...	ORPHA:90673
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Chol...	ORPHA:848
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalmi...	OMIM:618652
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,...	OMIM:274600
Hall-Riggs Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Prominent nose, Kyphosis, Hypopl...	OMIM:234250
Lethal Kniest-Like Dysplasia	Polyhydramnios, Short neck, Edema, Hypoplastic vertebral bodies, Narrow chest, Atrial septal defe...	ORPHA:2347
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hy...	ORPHA:163966
German Syndrome	Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Short stature, Shor...	ORPHA:2077
Quebec Platelet Disorder	Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Depressed nasal bridge, Anteverted nares, Sensorineural...	OMIM:184840
Joubert Syndrome 35	Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted na...	OMIM:618161
Arboleda-Tham Syndrome	Mandibular prognathia, Anteverted ears, Bilateral cryptorchidism, Secundum atrial septal defect, ...	OMIM:616268
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Abnormal salivary gland morphology, Nephrit...	ORPHA:2298
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Capillary heman...	ORPHA:163979
American Trypanosomiasis	Edema, Periorbital edema, Myocarditis, Cardiomyopathy, Pallor	ORPHA:3386
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Retinal detachment, Cataract, Short stature, Micrognathia, Sensorineural he...	ORPHA:250984
Lathosterolosis	Bilobate gallbladder, Micrognathia, High palate, Conductive hearing impairment, Thick upper lip v...	OMIM:607330
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Anteverted nares, ...	ORPHA:582
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote...	ORPHA:449285
Cerebellofaciodental Syndrome	Single transverse palmar crease, Short neck, Hypoplasia of the pons, Clinodactyly of the 5th fing...	OMIM:616202
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High...	OMIM:614188
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Proximal placement of thumb, Short neck, Sparse hair, Short st...	OMIM:212066
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Micrognathia, Metaphyseal widening, Flexion contracture, Delay...	OMIM:271640
Cofs Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1466
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Wildervanck Syndrome	Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Low posterior...	ORPHA:3456
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Coach Syndrome 2	Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydroce...	OMIM:619111
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Polyhydramnios, Micrognathia, Clinodactyly of the 5th finger, Pe...	OMIM:247200
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Thrombocytopenia, Epistaxis, Cerebral hemorrhage	ORPHA:3002
Combined Immunodeficiency-Enteropathy Spectrum	Polyhydramnios, Hypoplasia of the thymus, Sparse hair, Hashimoto thyroiditis, Peritoneal abscess,...	ORPHA:436252
Wilson Disease	Acute hepatic failure, Edema, Osteoarthritis, Pedal edema, Aminoaciduria, Hepatic steatosis, Hypo...	OMIM:277900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Hepatic f...	OMIM:263520
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Thrombocytopenia	ORPHA:67048
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Osteopenia, Hyperparathyroidism, Polyhydramnios, Femoral bowing, Gas...	OMIM:618188
Cat Eye Syndrome	Micrognathia, Biliary atresia, Chorioretinal coloboma, Atrial septal defect, Vesicoureteral reflu...	OMIM:115470
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congeni...	ORPHA:3455
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Short stature, ...	ORPHA:319195
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Adams-Oliver Syndrome	Leukopenia, Pulmonary artery atresia, Sparse hair, Encephalocele, Finger syndactyly, Alopecia, Pr...	ORPHA:974
Holt-Oram Syndrome	Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block...	ORPHA:392
Gillespie Syndrome	Cerebellar atrophy, Hypoplasia of the iris, Cerebellar hypoplasia, Aniridia, Truncus arteriosus, ...	OMIM:206700
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,...	OMIM:608257
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Low anterior hairline, Microcornea, Hypopl...	OMIM:260660
Alg9-Cdg	Villous atrophy, Short neck, Micrognathia, Abnormal lung lobation, Hydrops fetalis, Large fleshy ...	ORPHA:79328
Mosaic Trisomy 20	Micrognathia, Vertebral segmentation defect, Narrow chest, Limited pronation/supination of forear...	ORPHA:1724
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert...	ORPHA:958
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter...	ORPHA:64744
Feingold Syndrome	Hallux valgus, Brachydactyly, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Short sta...	ORPHA:1305
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Asplenia, Atrial septal defect, Atrioventricular canal defect, Abnormal ve...	ORPHA:210122
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort...	ORPHA:3099
Klippel-Feil Syndrome 2, Autosomal Recessive	Abnormal pinna morphology, Ventricular septal defect, Short neck, Cleft upper lip, Sensorineural ...	OMIM:214300
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Aredyld Syndrome	Mandibular prognathia, Refractory anemia with ringed sideroblasts, Advanced eruption of teeth, Lo...	ORPHA:1133
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Hemivertebrae, D...	OMIM:122600
Joubert Syndrome 13	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:614173
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Pontocerebellar Hypoplasia Type 10	Highly arched eyebrow, Underdeveloped nasal alae, Optic atrophy, Wide nasal bridge, Abnormal brai...	ORPHA:411493
Arima Syndrome	Cerebellar vermis hypoplasia, Brainstem dysplasia, Hypoplasia of the brainstem, Hepatic fibrosis,...	OMIM:243910
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, High palate, Short ph...	ORPHA:261337
Alkuraya-Kucinskas Syndrome	Edema, Micrognathia, Hypoplasia of the brainstem, High palate, Micropenis, Dandy-Walker malformat...	OMIM:617822
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short meta...	OMIM:619636
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m...	OMIM:156510
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Incre...	ORPHA:1782
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairmen...	OMIM:618748
Velocardiofacial Syndrome	Abnormality of the ear, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Hypopa...	OMIM:192430
Platyspondylic Dysplasia, Torrance Type	Polyhydramnios, Micromelia, Abnormal carpal morphology, Hydrops fetalis, Narrow chest, Short palm...	ORPHA:85166
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Isolated Exencephaly	Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Polyhydramnios, Abnorma...	ORPHA:563612
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteve...	OMIM:618961
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foo...	OMIM:614120
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Microcephaly With Cervical Spine Fusion Anomalies	Spinal cord compression, Vertebral fusion, Short stature, Spinal instability	OMIM:251250
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Joint laxity, Aganglionic megacolon, Hyperlordosis, Pectus excavatum, High, ...	OMIM:162300
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt...	OMIM:300367
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Hypoplasia of the...	ORPHA:85279
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Polyhydramnios, Anterior tibial bowin...	OMIM:114290
Arterial Tortuosity Syndrome	Myocardial infarction, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Kerato...	ORPHA:3342
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Secundum atrial septal defect, Metaphyseal widening, Sub...	ORPHA:99646
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia...	OMIM:619313
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar...	ORPHA:2412
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Retinal detachment, Rieger anomaly, Tented upper lip vermilion, Prominent ...	ORPHA:521445
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Decreased fetal movement, Hyperextensibility of the finger joints, Recurrent re...	OMIM:618356
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Fanconi Anemia, Complementation Group J	Microphthalmia, Intrauterine growth retardation	OMIM:609054
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Pulmonary arterial hypertension, Hypertrophic cardiomyopath...	OMIM:212350
Achondrogenesis Type 1B	Thickened nuchal skin fold, Severe short stature, Anteverted nares, Polyhydramnios, Short neck, M...	ORPHA:93298
Diaphragmatic Hernia 4, With Cardiovascular Defects	Polyhydramnios, Micrognathia, Aortopulmonary window, Pulmonary artery hypoplasia, Clinodactyly of...	OMIM:620025
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone ...	ORPHA:96181
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Neutropenia, An...	ORPHA:88
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia, Polyhydramnios	ORPHA:261272
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Prominent nose, Abno...	ORPHA:2180
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt...	OMIM:166250
Babesiosis	Hemolytic anemia, Myocardial infarction, Congestive heart failure, Splenomegaly, Leukopenia, Thro...	ORPHA:108
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Auriculocondylar Syndrome 2A	Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Micrognathia, Nar...	OMIM:614669
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Epispadias, Short palm, Large iliac wing, Bifid...	ORPHA:2588
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Asp...	ORPHA:141152
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:2470
Elsahy-Waters Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Anteriorly...	OMIM:211380
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Micrognathia, Ectopic kidney, Renal cyst, Anteriorly ...	OMIM:117650
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co...	OMIM:180700
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Anteverted nares, Aplasia/Hypoplasia of the tongue, Polyhydramn...	ORPHA:1790
Caudal Regression Syndrome	Ureteral duplication, Decreased muscle mass, Maternal diabetes, Ectopic kidney, Abnormal iliac wi...	ORPHA:3027
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla...	OMIM:252940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Chiari type I malformation, Oligodontia, Clinodactyly of the 5th...	ORPHA:1272
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Narrow mouth, Wide nasal bridge, Growth delay, Downturned corners of mouth, Wide m...	OMIM:617333
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ...	OMIM:171480
Yunis-Varon Syndrome	Congenital hip dislocation, Cerebellar vermis hypoplasia, Anterior concavity of thoracic vertebra...	OMIM:216340
Microphthalmia, Syndromic 8	Microphthalmia, Premature skin wrinkling	OMIM:601349
Pseudodiastrophic Dysplasia	Smooth philtrum, Lumbar hyperlordosis, Anteverted nares, Rhizomelia, Phalangeal dislocation, Shor...	OMIM:264180
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac...	OMIM:602782
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Osteoarthritis, Red...	ORPHA:740
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Edema, Lymphedema, Skin ulcer, Scaling skin, Chylothorax, Atrial septal defect, Mic...	ORPHA:2526
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Mixed hearing impairment, Unilateral renal agenesis, Short neck,...	OMIM:118100
Stickler Syndrome	Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit...	ORPHA:828
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Polyhydramnios, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, T...	OMIM:243150
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Cholecystitis, Broad ribs, Broad metacarpals, Hepatomegaly, Depressed nasal bridge, Hy...	OMIM:301066
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal widening, Coxa vara, Femoral bowing, Tibial bowing, Narrow greater sciatic notch, Hyp...	OMIM:608940
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Giant pl...	ORPHA:182050
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276556
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Bangstad Syndrome	Pancytopenia, Severe short stature, Insulin-resistant diabetes mellitus, Primary gonadal insuffic...	OMIM:210740
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Adrenal calcification, Portal hypertension, Bone-marrow foam cells, Hypersp...	OMIM:278000
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ...	ORPHA:93346
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m...	ORPHA:206448
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t...	OMIM:600791
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Gastrointestinal dysmotility, Abnormal opti...	ORPHA:506
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thr...	OMIM:603585
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Pectus carinatum, Downturned corners of mouth, Clinodactyly of the 5th ...	ORPHA:488642
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Ectop...	ORPHA:115
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Joint stiffness, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callos...	ORPHA:2182
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Pe...	OMIM:615777
Kleefstra Syndrome 1	Mandibular prognathia, Single transverse palmar crease, Synophrys, Conotruncal defect, Gastroesop...	OMIM:610253
Cat-Eye Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:195
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Hepat...	ORPHA:158057
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thum...	ORPHA:2091
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Polyhydramnios, Leukopenia, Microphallus, ...	OMIM:603467
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Short stat...	OMIM:609324
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Cerebellar atrophy, Tricuspid regurgitation, Bicuspid aortic valve, Ventric...	OMIM:620066
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ...	OMIM:187900
Joubert Syndrome 9	Encephalocele, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Astigmatism, Hepatic ...	OMIM:612285
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Pectus excavatum, Sensorineura...	OMIM:611584
Anauxetic Dysplasia 1	Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Cervical cord compression, Micr...	OMIM:607095
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Hypop...	ORPHA:268261
Atypical Pantothenate Kinase-Associated Neurodegeneration	Retinopathy, Tongue atrophy, Optic atrophy, Dysphagia	ORPHA:216873
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Uplifted earlobe, Micrognathia, High palate, Triphalangeal thumb, Tap...	OMIM:618580
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Hypophosphatasia, Infantile	Polyhydramnios, Bowing of the legs, Micromelia, Intracranial hemorrhage, Nephrocalcinosis, Unossi...	OMIM:241500
Limb-Mammary Syndrome	Cleft hard palate, Protruding ear, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uv...	ORPHA:69085
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Subglottic stenosis, Metaphyseal widening, Laryngotracheomalac...	OMIM:271510
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Disproportionate s...	OMIM:609223
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Autosomal Recessive Malignant Osteopetrosis	Bone pain, Reduced bone mineral density, Narrow chest, Otitis media, Hepatomegaly, Pulmonary arte...	ORPHA:667
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276575
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Joubert Syndrome 28	Joint laxity, Optic disc pallor, Highly arched eyebrow, Wide nasal bridge, Pigmentary retinopathy...	OMIM:617121
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d...	OMIM:613027
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus...	ORPHA:1225
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Premature birth, Maternal diabetes, Patent ductus arteriosus, Abnormal tricuspid valve morphology...	ORPHA:1208
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Cockayne Syndrome Type 2	Intrauterine growth retardation, Anophthalmia	ORPHA:90322
Ramos-Arroyo Syndrome	Xerostomia, Choanal stenosis, Smooth tongue, Atrial septal defect, Anteverted nares, Depressed na...	ORPHA:1051
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Abnormal thorax morphology, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebellar atrophy, Joint laxity, Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequ...	OMIM:620269
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276580
Fucosidosis	Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Vacuolated lymphocytes...	OMIM:230000
Isovaleric Acidemia	Thrombocytopenia, Leukopenia, Cerebellar hemorrhage, Pancytopenia	OMIM:243500
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ...	OMIM:183900
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso...	ORPHA:94068
Joubert Syndrome 7	Encephalocele, Retinal dystrophy, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand poly...	OMIM:611560
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Abnorm...	ORPHA:276422
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Marshall-Smith Syndrome	Accelerated skeletal maturation, Reduced bone mineral density, Conductive hearing impairment, Gen...	ORPHA:561
Marcus-Gunn Syndrome	Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Choanal atresia, Morning glory ...	ORPHA:91412
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Bowing of the legs, Micrognathia, Depressed nasal ridge, Knee flexion con...	OMIM:271665
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Bulbous nose, Synophrys, Opti...	OMIM:618737
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Orofacial cleft, Iris coloboma, Dand...	ORPHA:1647
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Chorioretinal c...	ORPHA:857
Oxoglutaric Aciduria	Skeletal muscle atrophy, Short stature, Hydrocephalus, Abnormal urine alpha-ketoglutarate concent...	ORPHA:31
Goldberg-Shprintzen Syndrome	Short neck, Hypoplasia of the maxilla, Synophrys, Hypoplasia of the brainstem, Oligodontia, Short...	OMIM:609460
Multiple Endocrine Neoplasia Type 2	Multiple mucosal neuromas, Prominent corneal nerve fibers, Elevated circulating parathyroid hormo...	ORPHA:653
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Anteverted nares, Bilateral single transverse...	ORPHA:3191
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Sacral dimple, Depressed nasal bridge, Short stature, Ventricular septal defect, Broad...	OMIM:619995
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Pierpont Syndrome	Microphthalmia, Excessive wrinkling of palmar skin	ORPHA:487825
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Acrodysostosis	Mandibular prognathia, Micromelia, Accelerated skeletal maturation, Hypoplasia of the maxilla, De...	ORPHA:950
Symphalangism, Proximal, 1A	Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalange...	OMIM:185800
Proteus-Like Syndrome	Communicating hydrocephalus, Mandibular prognathia, Thymus hyperplasia, Cataract, Anteverted nare...	ORPHA:2969
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Vacterl With Hydrocephalus	Anophthalmia, Polyhydramnios, Spina bifida, Microphthalmia, Intrauterine growth retardation	ORPHA:3412
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A...	ORPHA:90695
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Uppe...	ORPHA:496689
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Sclerocornea, Micrognathia, Lateral clavicle hook, Hig...	OMIM:600920
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Postnatal growth retarda...	ORPHA:254534
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Precocious ...	ORPHA:79414
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Trismus...	OMIM:616583
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax...	OMIM:614976
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Polyhydramnios, Short neck, Micromelia, Narrow chest, Neonatal short-limb short stature, Severe l...	OMIM:151210
Ring Chromosome 22 Syndrome	Edema, Protruding tongue, Lymphedema, Bulbous nose, Neurofibroma, 2-3 toe syndactyly, Growth dela...	ORPHA:1446
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping, Hydrocephalus, Depressed nasal ...	OMIM:300863
Achondroplasia	Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi...	OMIM:100800
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	ORPHA:226316
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Megaloblastic anemia, Hydrops fetalis, Dehydration, Neutropenia, Intrauterine...	ORPHA:79282
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Pendred Syndrome	Hyperparathyroidism, Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of ...	ORPHA:705
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti...	ORPHA:37553
Joubert Syndrome 16	Encephalocele, Retinal dystrophy, Renal cyst, Coloboma, Polydactyly, Nephronophthisis, Molar toot...	OMIM:614465
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Anteverted nares, Short stature,...	ORPHA:2031
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Gastrointestina...	ORPHA:531151
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas...	ORPHA:67045
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra...	OMIM:607155
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Fetal Iodine Deficiency Disorder	Congenital hypothyroidism, Congenital goiter, Hearing impairment	OMIM:228355
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Limb Body Wall Complex	Congenital diaphragmatic hernia, Amniotic constriction ring, Abnormality of the liver, Cutaneous ...	ORPHA:2369
Costello Syndrome	Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Limited elbow movement, Micr...	OMIM:218040
Sarcoidosis	Abnormal nasal mucosa morphology, Heart block, Abnormal lung morphology, Increased T cell count, ...	ORPHA:797
Thanatophoric Dysplasia, Type I	Champagne cork sign, Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Sm...	OMIM:187600
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-...	OMIM:226980
Distal Duplication 5Q	Micrognathia, Aplasia/Hypoplasia of the gallbladder, Chorioretinal coloboma, Hypoplasia of the ul...	ORPHA:96097
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Polyhydramnios, Short neck, Bowing of the legs, Micromeli...	OMIM:200600
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Increased vertebral height, Vacuolated lymphocytes, Depressed nasal ridge,...	OMIM:248500
8Q22.1 Microdeletion Syndrome	Short neck, Hypoplasia of the maxilla, Depressed nasal ridge, Finger syndactyly, Underfolded heli...	ORPHA:178303
Cronkhite-Canada Syndrome	Lymphedema, Hamartomatous polyposis, Neoplasm, Stomach cancer, Dystrophic fingernails, Intestinal...	ORPHA:2930
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the...	OMIM:109120
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Retinal detachment, Cataract, Optic nerve hypoplasia, Hearing impairment, ...	OMIM:620157
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Limited hip extensi...	OMIM:617114
H Syndrome	Microcytic anemia, Corneal arcus, Micropenis, Alopecia, Psoriasiform dermatitis, Short stature, C...	ORPHA:168569
Occipital Horn Syndrome	Osteopenia, Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum...	ORPHA:198
Thrombocytopenia 3	Thrombocytopenia, Epistaxis, Decreased mean platelet volume	OMIM:273900
Trisomy 8Q	Hypoplasia of penis, Short neck, Micrognathia, Orofacial cleft, Protruding ear, Long thorax, High...	ORPHA:1752
Joubert Syndrome 40	Molar tooth sign on MRI, Depressed nasal bridge, Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Joubert Syndrome 22	Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, ...	OMIM:615665
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Short stature, Abnormal dental morphology, Open bite, Dental malocclusion,...	ORPHA:3079
Meckel Syndrome 13	Occipital encephalocele, Micrognathia, Flexion contracture, Cerebellar hypoplasia, Polycystic kid...	OMIM:617562
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, High, narrow palate, Abnormal sternum morphology, High palate, Emphysema, ...	OMIM:614816
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Short stature, Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Furrowed...	ORPHA:2928
Spondyloenchondrodysplasia With Immune Dysregulation	Increased intervertebral space, Metaphyseal widening, Irregular vertebral endplates, T lymphocyto...	OMIM:607944
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Coxa vara, Pectus carinatum, Narrow greater sciatic notch, Club-shaped proximal femur, Hyperlordo...	OMIM:184250
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Orofaciodigital Syndrome Type 5	High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ...	ORPHA:2919
Joubert Syndrome 15	Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Nephronophthisis, Molar tooth sig...	OMIM:614464
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Sparse hair, Joint contracture, Joint laxity, Short stature, Increased susceptibility...	OMIM:615349
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu...	ORPHA:99050
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Opsismodysplasia	Polyhydramnios, Short neck, Edema, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ...	OMIM:258480
Moebius Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis...	ORPHA:570
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short n...	ORPHA:583
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,...	OMIM:183600
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia...	ORPHA:52056
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short stature, Short thorax, Ab...	ORPHA:2484
Spondyloocular Syndrome	Osteopenia, Lymphedema, Pectus carinatum, Atrial septal defect, Dysplastic aortic valve, Long toe...	OMIM:605822
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Cardiomegaly, Synophrys, Abnormal thymus morphology, High palate, Lumbar hemivertebra...	ORPHA:2463
Mowat-Wilson Syndrome	Uplifted earlobe, Pectus carinatum, Microcornea, Widely spaced teeth, Chorioretinal coloboma, Atr...	OMIM:235730
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Prem...	OMIM:616723
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe...	OMIM:223800
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Perifoveal ring of hype...	OMIM:240300
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Urinary incont...	ORPHA:101085
Juberg-Hayward Syndrome	Abnormal finger morphology, Orofacial cleft, Anteriorly placed anus, Abnormality of the wrist, Ab...	ORPHA:2319
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Short stature, Craniosynostosis, Coxa valga, Delayed skeleta...	ORPHA:2163
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa...	OMIM:153670
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Polyhydramnios, Micrognathia, Coxa vara, Gastro...	ORPHA:93316
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Eosinophilic infiltration of the esoph...	OMIM:615508
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema, Webbed neck, Abnormality of the outer ear, Hearing i...	OMIM:314600
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Three M Syndrome 2	Short neck, Protruding ear, Pectus carinatum, High palate, Intrauterine growth retardation, Scapu...	OMIM:612921
Kawasaki Disease	Abnormality of nail color, Edema, Sterile pyuria, Conjunctivitis, Cholecystitis, Recurrent pharyn...	ORPHA:2331
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest...	OMIM:275000
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib ...	OMIM:271520
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Lymphedema, Vertigo, Optic atrophy, Abnormal brainstem ...	ORPHA:79279
Melioidosis	Shock, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infection, A...	ORPHA:31202
Recon Progeroid Syndrome	Attached earlobe, Skeletal muscle atrophy, Dental crowding, Proximal placement of thumb, Absent l...	OMIM:620370
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Cardiomegaly, Tricuspid regurgitation, Depressed nasal bridge, Abnormal at...	ORPHA:324410
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate...	OMIM:142945
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
White Forelock With Malformations	Low-set, posteriorly rotated ears, Finger syndactyly, Atrial septal defect, Deep philtrum, Delaye...	ORPHA:2475
Thyroid Dyshormonogenesis 5	Growth delay, Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Growth delay, Hypothyroidism, Goiter	OMIM:274800
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Chiari type I malformati...	OMIM:194050
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern...	ORPHA:2255
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Xanthelasma, Stomatocytosis, Hy...	OMIM:210250
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease...	OMIM:613986
Cartilage-Hair Hypoplasia	Fair hair, Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Sho...	OMIM:250250
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta...	OMIM:259600
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Abnormal tibia morphology, Orofacial cleft, Abnormal sternum mor...	ORPHA:1335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Cardiomyopathy	OMIM:613155
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree...	OMIM:617021
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Aspergillosis	Sinusitis, Vitritis, Intracranial hemorrhage, Abnormal long bone morphology, Neutropenia, Abnorma...	ORPHA:1163
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Short stature, Restricted large joint movement, Disproportionate short-t...	ORPHA:163665
Warsaw Breakage Syndrome	Ventricular septal defect, Single transverse palmar crease, Postnatal growth retardation, Hypopla...	OMIM:613398
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra...	OMIM:617719
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia mo...	ORPHA:2879
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ...	OMIM:188570
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Facial capillary hemangioma, Synophrys, Aplasia of the distal phalanx...	ORPHA:364577
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen...	OMIM:603909
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:48431
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Dental crowding, Limited elbow movement, Micrognathia, High,...	ORPHA:558
Ollier Disease	Chondrosarcoma, Micromelia, Joint stiffness, Precocious puberty, Visceral angiomatosis, Abnormal ...	ORPHA:296
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Ureteral stenosis, Abnormal hemidiaphragm morphology, Dextrocar...	ORPHA:2257
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo...	ORPHA:85198
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Sensorineural hearing impairment, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphocytosis, Hemophagocytosis, Neutrop...	OMIM:308240
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun...	OMIM:616050
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl...	OMIM:139090
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, ...	OMIM:619123
Raine Syndrome	Mandibular prognathia, Micromelia, Short neck, Micrognathia, Protruding ear, Choanal stenosis, Hi...	OMIM:259775
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee...	OMIM:617402
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dental crowding, Micrognathia, Premature rupture of membranes, Hypoplasia of the brainstem, Short...	OMIM:618343
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Ather...	OMIM:614008
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha...	OMIM:184252
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Occipital Horn Syndrome	Persistent open anterior fontanelle, Pectus carinatum, Coarse hair, High palate, Narrow chest, Br...	OMIM:304150
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Harrod Syndrome	Multicystic kidney dysplasia, Cataract, Arachnodactyly, Hypospadias, Long nose, Cryptorchidism, K...	ORPHA:2115
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Short neck, Micr...	OMIM:620369
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed skeletal maturation, Reduced bo...	OMIM:617974
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Cataract, Severe short stature, Delayed skeletal maturation, Ab...	ORPHA:2643
Menkes Disease	Micrognathia, Venous insufficiency, Intracranial hemorrhage, Narrow chest, Sparse hair, Woolly ha...	ORPHA:565
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Single transverse palmar crease, Synophrys, High palate, Prominent fingert...	OMIM:617804
Mandibulofacial Dysostosis With Alopecia	Alopecia, Hydroureter, Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth,...	OMIM:616367
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy...	ORPHA:91347
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Neuropathic spinal arthropathy, Thin upper lip vermi...	ORPHA:3166
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Thrombocytopenia, Cardiomyopathy, Leukopenia, Anemia	ORPHA:27
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter	OMIM:616534
Systemic Lupus Erythematosus	Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia	OMIM:152700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia	ORPHA:79312
Joubert Syndrome 32	Depressed nasal bridge, Abnormal cerebellum morphology, Postaxial hand polydactyly, Postaxial foo...	OMIM:617757
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Grant Syndrome	Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Short stature, Micrognathia,...	ORPHA:2097
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Umbilical hernia, Anophthalmia, Tricuspid valve prolapse	ORPHA:1101
Rhabdoid Tumor	Hypertension, Thrombocytopenia, Internal hemorrhage, Anemia	ORPHA:69077
Sotos Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Astrocytoma, Accelerated skeletal maturation,...	ORPHA:821
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertension, Mitral regu...	OMIM:230800
Retinal Dystrophy With Or Without Extraocular Anomalies	Retinal dystrophy, Pulmonary fibrosis, Goiter	OMIM:617175
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Ventricular septal defect	OMIM:602501
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Intracranial hemorrhage, Papillary renal cell carcino...	ORPHA:363618
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Hypothyroidism, Anemia	OMIM:620184
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Pectus excavatum, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, P...	ORPHA:166100
Thyroid Cancer, Nonmedullary, 1	Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter	OMIM:188550
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi...	ORPHA:1426
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas...	ORPHA:3032
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
Okamoto Syndrome	Facial hypertrichosis, Tented upper lip vermilion, Urinary incontinence, Primum atrial septal def...	ORPHA:2729
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Inguinal hernia, Hypospadias, Hypoplasia of the maxilla, Cr...	OMIM:601499
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short stature, Prominent nasal bridge, Sensorineural hearing impairmen...	ORPHA:71267
Renpenning Syndrome 1	Mandibular prognathia, Brittle hair, Micrognathia, Protruding ear, Coloboma, High palate, Short p...	OMIM:309500
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Hypotension, An...	ORPHA:91547
Deafness-Lymphedema-Leukemia Syndrome	Pallor, Lymphedema	ORPHA:3226
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Areflexia of upper limbs, Axonal degeneration, Upper limb muscle weakness, Talipe...	OMIM:616155
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, High palate, Long ear, Foot oligodac...	OMIM:276820
Mucopolysaccharidosis, Type X	Spatulate ribs, Posterior scalloping of vertebral bodies, Widely spaced teeth, Broad ribs, Thicke...	OMIM:619698
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Microcornea, Persistent pupi...	OMIM:257850
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyr...	ORPHA:449432
Orofaciodigital Syndrome Type 3	Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit...	ORPHA:2752
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi...	OMIM:209900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Ag...	OMIM:613091
Thyroid Dyshormonogenesis 2A	Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific...	OMIM:274500
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, Leukocytosis, ...	ORPHA:824
Orofaciodigital Syndrome Xvi	Inguinal hernia, Depressed nasal bridge, Hamartoma of tongue, Postaxial hand polydactyly, Postaxi...	OMIM:617563
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Broad nasal ti...	OMIM:300602
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Diets-Jongmans Syndrome	Thin upper lip vermilion, Inguinal hernia, Short stature, Ventricular septal defect, Congenital d...	OMIM:618846
Blepharochalasis And Double Lip	Blepharochalasis, Duplication of the upper lip, Goiter	OMIM:109900
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, Oligohydramnios	OMIM:619053
Autosomal Dominant Brachyolmia	Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal ...	ORPHA:93304
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Aortopu...	OMIM:208530
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Urinary incontinence, Femoral bowing, Tibial bowing, Gastroesophageal reflux, Narrow chest, Neona...	OMIM:616482
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Laryngeal stenosis, Ectopic kidney, Pre...	OMIM:192350
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Cryptorchidism, Type I diabetes mellitus, Lymphopenia, Anemia	OMIM:620365
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ventricular septal defect	OMIM:613730
Microtia	Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Holoprosence...	ORPHA:83463
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor...	ORPHA:1328
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Short stature, Abnormal dental enamel morphology, Pr...	ORPHA:2107
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Single transverse palmar crease, Prominent nose, Narrow greater sciatic notch, Dislocated radial ...	OMIM:617425
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy...	OMIM:222300
Hypoglossia With Situs Inversus	Micrognathia, Asplenia, Situs inversus totalis, Narrow mouth, High palate, Hypodontia, Low-set ea...	OMIM:612776
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Chime Syndrome	Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Sparse hair, Abnormal dental morp...	ORPHA:3474
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co...	ORPHA:249
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Mixed hearing impairment, Dental crowding, Facial palsy, Metaphyseal widen...	OMIM:123000
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu...	ORPHA:2167
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Depressed nasal ri...	ORPHA:99843
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Recurrent respiratory infections, F...	OMIM:211530
Gm1-Gangliosidosis, Type I	Thickened ribs, Short neck, Vacuolated lymphocytes, Depressed nasal ridge, Hydrops fetalis, Hypop...	OMIM:230500
Thanatophoric Dysplasia, Type Ii	Decreased fetal movement, Small abnormally formed scapulae, Polyhydramnios, Micromelia, Hypoplast...	OMIM:187601
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm...	ORPHA:86839
Osteogenesis Imperfecta, Type Ii	Beaded ribs, Multiple prenatal fractures, Tibial bowing, Premature birth, Nonimmune hydrops fetal...	OMIM:166210
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, White hair, Premature g...	ORPHA:1775
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin...	ORPHA:93351
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Nonimmune hydrops fetalis, Pallor	OMIM:266200
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Premature birth, Portal hypertensio...	ORPHA:567983
Heterotaxy, Visceral, 2, Autosomal	Intestinal malrotation, Dextrocardia, Asplenia, Bilateral superior vena cava, Situs inversus tota...	OMIM:605376
Jeune Syndrome	Abnormal clavicle morphology, Micromelia, Abnormality of the liver, Abnormal sternum morphology, ...	ORPHA:474
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to...	ORPHA:2619
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Broad ribs, Broad metacarpals, Lumbar hyperlordosis, Depressed nasal b...	OMIM:277600
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Laryngeal stenosis, Flexion contracture of the 2nd finger, Widely spaced teeth, Joint contracture...	ORPHA:324540
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease...	OMIM:269150
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Radial deviation of the 3rd finger, Co...	OMIM:149730
Thyroid Lymphoma	Hyperthyroidism, Lymphoma, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Pierpont Syndrome	Microphthalmia	OMIM:602342
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, ...	OMIM:612847
Meningioma	Back pain, Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolac...	ORPHA:2495
Seckel Syndrome 9	Decreased fetal movement, Recurrent respiratory infections, Short stature, Ventricular septal def...	OMIM:616777
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu...	OMIM:613011
X-Linked Agammaglobulinemia	Alopecia, Osteomyelitis, Short stature, Abnormality of the tonsils, Sinusitis, Malabsorption, Thr...	ORPHA:47
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Spondyloepimetaphyseal Dysplasia, Shohat Type	Laryngeal stenosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal ...	ORPHA:93352
Agel Amyloidosis	Tongue atrophy, Cataract, Proteinuria, Facial palsy, Edema, Respiratory tract infection, Xerostom...	ORPHA:85448
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Supraumbilical raphe, Cavernous hemangioma of the face, Coarctation of aorta, Right aortic arch, ...	OMIM:140850
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy, Furrowed tongue	ORPHA:2743
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Abnormal pupil morphology, Ab...	ORPHA:286
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Single transverse palmar crease, Short neck, Micrognathia, Syn...	OMIM:619297
Sclerosteosis 1	Mandibular prognathia, Papilledema, Syndactyly, Depressed nasal bridge, Facial palsy, Sclerotic s...	OMIM:269500
Craniotubular Dysplasia, Ikegawa Type	Increased intervertebral space, Short palm, Broad ribs, Thick upper lip vermilion, Anteverted nar...	OMIM:619727
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Xerostomia, Downturned corners of mouth, Chorioretinal hypopigme...	ORPHA:398069
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Split hand...	OMIM:246560
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Urinary incontinence, Hand muscle weakness, Limb-girdle muscle w...	ORPHA:466768
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing...	ORPHA:1436
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Aciduria,...	OMIM:203700
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev...	ORPHA:1529
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat...	ORPHA:2929
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor	OMIM:615631
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Laryngeal stenosis, Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized ...	ORPHA:93360
Spondyloepiphyseal Dysplasia, Kimberley Type	Proportionate short stature, Flat capital femoral epiphysis, Delayed skeletal maturation, Genu va...	OMIM:608361
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact...	ORPHA:1788
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf...	OMIM:620107
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Abnorma...	ORPHA:285
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Congenital hip dislocation, Limited elbow movement, Short neck, Micrognath...	OMIM:615065
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co...	OMIM:614823
Carney Complex	Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Thyroid carcinoma, Papillary thyr...	ORPHA:1359
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Low anterior hairline, Hi...	OMIM:608156
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Sparse hair,...	OMIM:129400
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat...	OMIM:271650
Brachyolmia, Maroteaux Type	Short stature, Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondy...	ORPHA:93302
Hartnup Disorder	Glossitis, Short stature, Neutral hyperaminoaciduria	OMIM:234500
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Short stature, Sparse facial hair, Sparse axillary hair, Hypoplasia of the maxilla, S...	OMIM:608154
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Short neck, Edema, Hemivertebrae, Sparse hair, Dandy-Walker malformation, Rhizome...	OMIM:302960
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Scleromyxedema	Abnormality of the gastrointestinal tract, Transient ischemic attack, Abnormality of thyroid phys...	ORPHA:167635
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Umbilical hernia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale	OMIM:618914
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Rib exostoses, Cli...	ORPHA:2108
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux,...	OMIM:613803
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Ventricular septal defect, Alopecia totalis, Pericardi...	OMIM:618775
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios	ORPHA:228390
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Decreased distal sensory nerve action po...	ORPHA:99956
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Facial capillary hemangioma, Micrognathia, Synophrys, Aplasia of the ...	OMIM:608670
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Short neck, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip a...	ORPHA:2001
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn...	ORPHA:91387
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Short stature, Recurrent fractures, P...	ORPHA:1486
Tularemia	Leukocytosis, Thrombocytopenia, Tachycardia, Anemia	ORPHA:3392
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Delayed skeletal maturation, Hyp...	OMIM:601216
Gorlin-Chaudhry-Moss Syndrome	Short stature, Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Patent duct...	ORPHA:2095
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Primary hyperparathyroidism, Dysphagia, Abnormal liver parenchym...	ORPHA:1332
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Polyhydramnios, Proximal placement of thumb, Urethral atresia, Neonatal death, Atrioventricular c...	OMIM:314390
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy	OMIM:618805
Fibrochondrogenesis 2	Anteverted nares, Thoracic hypoplasia, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped...	OMIM:614524
Dravet Syndrome	Pallor	ORPHA:33069
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Hypoplasia of the maxilla, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Aplasia/Hypop...	ORPHA:306542
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Megaloblastic anemia, Cystathioninuria, High palate, Neutropenia, Atrial septal defect, Homocysti...	OMIM:277380
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Tented upper lip vermilion, Prolonged QRS complex, Decreased response to...	ORPHA:273
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, Short neck, High, narrow palate, Deep philtrum, Low anteri...	OMIM:619950
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc...	OMIM:608728
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Myotonic Dystrophy 1	Decreased fetal movement, Atrial flutter, Atrial fibrillation, Cataract, First degree atrioventri...	OMIM:160900
Lymphatic Malformation 6	Polyhydramnios, Micrognathia, Edema, Facial edema, Lymphedema, Periorbital edema, Gastroesophagea...	OMIM:616843
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Dry skin, Cutis laxa	OMIM:612379
Mandibuloacral Dysplasia	Alopecia, Dental crowding, Delayed cranial suture closure, Micrognathia, Postnatal growth retarda...	ORPHA:2457
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Osteomyelitis, Kyphosis, Gastrointestinal dysm...	ORPHA:88628
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Arachnodactyly, Pectus excavatum, Secundum atrial septal defect, Pectus carinat...	OMIM:619910
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Delayed skeletal maturation, Elevated circulating th...	ORPHA:99832
Joubert Syndrome 33	Molar tooth sign on MRI, Splenomegaly, Cone/cone-rod dystrophy, Syndactyly	OMIM:617767
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Joint hemorrhage, Epistaxis, Thrombocytopenia	OMIM:277480
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Radial bowing, U...	OMIM:617866
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos	OMIM:619318
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo...	OMIM:241310
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atr...	ORPHA:157965
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Cranial nerve compression, Leukopenia, High palate, Conductive hearing impairment, ...	ORPHA:2785
Fibrochondrogenesis	Micromelia, Short neck, Abnormal form of the vertebral bodies, Narrow chest, Broad ribs, Depresse...	ORPHA:2021
Isolated Agammaglobulinemia	Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils	ORPHA:229717
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Short stature, Wide nasal bridge, Fused cervical vertebrae, Short middle...	OMIM:309620
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Micrognathia, Ank...	OMIM:602483
Multiple Synostoses Syndrome 2	Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta...	OMIM:610017
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Edema, Xerostomia, Downturned ...	ORPHA:739
Atelosteogenesis, Type Iii	Cervical kyphosis, Short neck, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Knee dislo...	OMIM:108721
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, A...	ORPHA:99094
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Increased...	ORPHA:1798
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia, Epistaxis, Portal hypertension	OMIM:619463
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Depressed nasal bridge, Wide anterior fontanel, Decreased proportion of CD8-positive T cells, Bro...	OMIM:617241
Myasthenic Syndrome, Congenital, 10	Decreased fetal movement, Tongue atrophy, Proximal amyotrophy, Distal amyotrophy, Weakness of fac...	OMIM:254300
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Orofaciodigital Syndrome Type 2	Micrognathia, Central retinal vessel vascular tortuosity, Protruding ear, Finger clinodactyly, Hi...	ORPHA:2751
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia	OMIM:615085
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia...	OMIM:620076
Congenital Tracheal Stenosis	Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lun...	ORPHA:141127
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr...	OMIM:180295
Parkes Weber Syndrome	Back pain, Abnormal femoral metaphysis morphology, Cerebral arteriovenous malformation, Hypertrop...	ORPHA:90307
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Micrognathia, Hydrops fetalis, Renal cyst, Narrow chest, Absent ...	ORPHA:93271
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Prominent nasal bridge, Protruding tongue, Dysplastic corpus callosum, Recurrent p...	OMIM:619179
Neurocardiofaciodigital Syndrome	Cerebellar vermis hypoplasia, Sclerocornea, High palate, Vesicoureteral reflux, Sparse hair, Atri...	OMIM:619869
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, High palate, Short philtrum, Micropeni...	ORPHA:96176
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca...	OMIM:613795
Branchioskeletogenital Syndrome	Attached earlobe, Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxi...	ORPHA:1299
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,...	ORPHA:98849
3Mc Syndrome 2	Limited elbow movement, Partial abdominal muscle agenesis, Downturned corners of mouth, High pala...	OMIM:265050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Micrognathia, High palate, Emphysema, Prominence of the premaxil...	OMIM:614437
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Thrombocyto...	ORPHA:99828
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Short stature, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v...	OMIM:604864
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Abnormality of the uppe...	ORPHA:624
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S...	ORPHA:85167
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Thoracic aortic aneurysm, Arachnodactyly, Pectus excavatum, Pectus carinatum...	OMIM:616166
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus e...	OMIM:616294
Burning Mouth Syndrome	Abnormality of taste sensation, Abnormal fifth cranial nerve morphology, Parageusia, Abnormality ...	ORPHA:353253
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectal atresia, Hypoplasia of the radius, Perineal fistula, Rectovaginal fistula, ...	ORPHA:3016
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,...	OMIM:614753
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Laryngeal stenosis, Short metacarpal, Enlarged interphalangeal joints, Short statu...	OMIM:151200
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac...	OMIM:610967
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Neuropathic spinal arthropathy, Tongue atrophy, Cerebe...	ORPHA:99949
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia,...	OMIM:235400
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Leprosy	Skeletal muscle atrophy, Autoamputation of digits, Absent eyebrow, Alopecia, Epistaxis, Abnormali...	ORPHA:548
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge,...	ORPHA:2662
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H...	OMIM:147750
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal intervertebral disk morphology, Cataract, Abnormal heart valve morphology, Pulmonary emb...	ORPHA:1345
Marfan Syndrome	Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Genu recurvatum, Equinus calcaneus...	OMIM:154700
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Protruding ear, Tibial bowing, Spina bifida occulta, Long hallux, Multicys...	ORPHA:500095
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Dentin...	OMIM:259440
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop...	OMIM:135100
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,...	OMIM:614779
Alkaptonuria	Arthropathy, Low back pain, Vertebral fusion, Mitral valve calcification, Coronary artery calcifi...	OMIM:203500
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ...	OMIM:211350
Joubert Syndrome 30	Cerebellar atrophy, Ventriculomegaly, Retinal dystrophy, Postaxial hand polydactyly, Molar tooth ...	OMIM:617622
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Oral ulcer, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Al...	ORPHA:50918
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, High palate, Sparse hair, Thick upper li...	ORPHA:560
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus...	ORPHA:1972
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Acquired Purpura Fulminans	Intracranial hemorrhage, Thrombocytopenia, Internal hemorrhage, Shock	ORPHA:49566
Pontocerebellar Hypoplasia, Type 1B	Cerebellar atrophy, Skeletal muscle atrophy, Tongue atrophy, Retinal dystrophy, Flexion contractu...	OMIM:614678
Pseudodiastrophic Dysplasia	Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equino...	ORPHA:85174
Joubert Syndrome 27	Molar tooth sign on MRI, Retinopathy, Thick lower lip vermilion, Polydactyly	OMIM:617120
Idiopathic Pulmonary Hemosiderosis	Pallor, Cardiomegaly	ORPHA:99931
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Rhabdomyolysis, Palpitations, Goiter	OMIM:188580
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Narrow chest, Atrial se...	ORPHA:289
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Diabetes mellitus, Thrombocytopenia, Leukopenia, Pulmonary arterial hypertension, A...	OMIM:613845
Stt3B-Cdg	Cryptorchidism, Thrombocytopenia	ORPHA:370924
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Corneal opacity, Ankle swelling, Co...	OMIM:166300
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Cog4-Cdg	Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Congestive heart failure, Pituitary adenoma, C...	OMIM:160980
Fetal Gaucher Disease	Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thrombocytopenia	ORPHA:85212
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Irida Syndrome	Pallor	ORPHA:209981
Macrophage Activation Syndrome	Hypertriglyceridemia, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural kille...	ORPHA:158061
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst, Molar tooth sign on MRI, Retinopathy	OMIM:614970
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Choanal atresia, Ar...	ORPHA:83
Developmental And Epileptic Encephalopathy 31B	Protruding tongue, Optic atrophy, Gingival overgrowth, Colpocephaly, Low-set ears, Agenesis of co...	OMIM:620352
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Myelofibrosis	Pallor, Purpura	OMIM:254450
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch...	OMIM:250220
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Bicuspid aortic valve, Deep philtrum, Gastroesophageal reflux, Aspiration pneumonia, ...	ORPHA:438213
Gaucher Disease Type 1	Osteopenia, Osteoarthritis, Bone pain, Pedal edema, Leukopenia, Avascular necrosis, Biliary tract...	ORPHA:77259
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno...	ORPHA:90790
Tetraamelia Syndrome 1	Cataract, Choanal atresia, Congenital diaphragmatic hernia, Cleft upper lip, Asplenia, Micrognath...	OMIM:273395
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Posteriorly rotat...	OMIM:612813
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Lymphedema-Distichiasis Syndrome	Diabetes mellitus, Cataract, Predominantly lower limb lymphedema, Proteinuria, Cleft upper lip, P...	ORPHA:33001
Propionic Acidemia	Pancytopenia, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia	OMIM:606054
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Orofacial cleft, Atrial septal defect, Clinodactyly of the 5th finger, Advanced e...	ORPHA:1519
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Thrombocytopenia	OMIM:615597
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Type I diabetes m...	OMIM:301078
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Myelodysplasia, Absent thumb, Hypoplasia o...	OMIM:617784
Ravine Syndrome	Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin...	ORPHA:99852
Hydrolethalus Syndrome 1	Polyhydramnios, Micrognathia, Abnormal lung lobation, Severe hydrocephalus, Agenesis of corpus ca...	OMIM:236680
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Macrotia, Decreased testicular s...	ORPHA:93950
Campomelia, Cumming Type	Hepatomegaly, Abnormally ossified vertebrae, Brachydactyly, Bowing of the long bones, Multicystic...	ORPHA:1318
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Pallor, Microphthalmia, Congenital aphakia, Pulmonary edema	ORPHA:137675
Icf Syndrome	Communicating hydrocephalus, Recurrent respiratory infections, Depressed nasal bridge, Short stat...	ORPHA:2268
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Short stature, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of ...	ORPHA:3201
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Lymphoproliferative disor...	ORPHA:33276
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Prominent nasal bridge, Pectus excavatum, Kyphosis, Hypoplasia ...	OMIM:300676
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Dehydration	OMIM:214150
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Alopecia, Ulnar deviation of the hand, Limb joint contracture, Hypogonad...	OMIM:612079
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Edema	ORPHA:2505
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Flexion contracture, Femoral bowing, Choanal stenosis, Narrow chest, Atrial septal defect, Depres...	OMIM:207410
Necrotizing Enterocolitis	Shock, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia	ORPHA:391673
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Hypoplasia of the maxilla, Hydrocephalus, Synophrys, Wide nasal bridge, Protr...	OMIM:618302
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Nephronophthisis, Molar too...	OMIM:619113
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Loss of Purkinje cells in the cerebellar vermis, Atr...	ORPHA:98755
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Hearing impairment, Recurrent fractures,...	OMIM:166200
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hydrocephalus, Vertigo, Hypoplasi...	OMIM:614195
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra...	OMIM:613239
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Intrauterine growth retardation, Ventricular septal defect, Abnormal heart morpho...	ORPHA:494344
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Streak ovary, Abnormal peripheral myelination, Increased circulating gon...	ORPHA:168563
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,...	ORPHA:93941
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,...	ORPHA:168555
Morquio Syndrome C	Platyspondyly, Severe short stature, Corneal opacity	OMIM:252300
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Shor...	OMIM:616229
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Intestinal m...	ORPHA:3035
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Accelerated skele...	ORPHA:251937
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Portal hypertension, Hepatosplenomegaly	ORPHA:210136
Okur-Chung Neurodevelopmental Syndrome	Single transverse palmar crease, Polyhydramnios, Micrognathia, Synophrys, High palate, Clinodacty...	OMIM:617062
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia, Pulmonary hemo...	OMIM:619644
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Abnormality of the temporomandibular joint, Flexion contracture, Gastroesophageal reflu...	ORPHA:258
Norrie Disease	Sclerocornea, Venous insufficiency, Abnormal pupil morphology, Protruding ear, Hypoplasia of the ...	ORPHA:649
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Testicular atrophy, Thrombocytopenia	OMIM:613987
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplas...	OMIM:200980
Congenital Enterovirus Infection	Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, Cardiomyopathy, Leuk...	ORPHA:292
Primrose Syndrome	Skeletal muscle atrophy, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Flexion ...	OMIM:259050
Craniopharyngioma	Neoplasm of the anterior pituitary, Myocardial infarction, Papilledema, Abnormal nasal bone morph...	ORPHA:54595
Cockayne Syndrome Type 1	Anophthalmia	ORPHA:90321
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn...	OMIM:300400
Craniolenticulosutural Dysplasia	Brittle hair, Hypoplasia of the maxilla, Coarse hair, High palate, Narrow chest, Capillary hemang...	ORPHA:50814
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Prominent nose, Cardiomegaly, Microcytic anemia, Flexion contracture, El...	OMIM:256040
Lig4 Syndrome	Pancytopenia, Cryptorchidism, Telangiectasia, Acute lymphoblastic leukemia, Type II diabetes mell...	OMIM:606593
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Short neck, Micrognathia, Widely-spaced maxillary central incisors, H...	OMIM:309580
Thrombocytopenia 6	Spontaneous, recurrent epistaxis, Thrombocytopenia	OMIM:616937
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Primary Sclerosing Cholangitis	Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fib...	ORPHA:171
Familial Congenital Mirror Movements	Fused cervical vertebrae, Abnormal corticospinal tract morphology, Agenesis of corpus callosum, H...	ORPHA:238722
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Protruding tongue, Malabsorption,...	OMIM:242860
Glutaric Aciduria Iii	Hypertension, Glutaric aciduria, Hyperthyroidism, Goiter	OMIM:231690
Joubert Syndrome 4	Renal insufficiency, Cerebellar vermis hypoplasia, Abnormal renal medulla morphology, Stage 5 chr...	OMIM:609583
Thrombocytopenia 1	Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge...	OMIM:313900
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Pericarditis, Prolonged QTc interval, Anemia	ORPHA:231111
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal ...	OMIM:617798
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Intrauterine growth retardation	OMIM:610756
Adams-Oliver Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:614219
Campomelic Dysplasia	Short neck, Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,...	ORPHA:140
Intellectual Developmental Disorder, Autosomal Dominant 58	Inguinal hernia, Posteriorly rotated ears, Facial hypotonia, Single transverse palmar crease, Bro...	OMIM:618106
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Xerostomia, Downturned corners of mouth, Chorioretinal hypopigmentation, Premature ad...	ORPHA:398079
Pmm2-Cdg	Osteopenia, Mandibular prognathia, Multiple joint contractures, Cerebellar vermis hypoplasia, Pro...	ORPHA:79318
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Delayed skeletal maturation, Elevated circulating thyroid-stimulating hormone c...	OMIM:218700
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Genu recurvatum, Synophrys, Lens coloboma,...	OMIM:619539
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Hamartoma of tongue, Postaxial polydactyly, Pectus excavatum, Acce...	OMIM:258860
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal brainstem morphology, Abnormal cerebellum morphology, Agenesis of corpus callosum, Ventr...	ORPHA:255182
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor	OMIM:600462
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	ORPHA:85284
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia	OMIM:611126
Waldenström Macroglobulinemia	Periorbital edema, Pedal edema, Pallor, Pleural effusion, Purpura	ORPHA:33226
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Abdominal aortic aneurysm, Bi...	ORPHA:284984
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Beta-Ketothiolase Deficiency	Pallor, Edema, Dehydration	ORPHA:134
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Proteinuria, Epistaxis, Elevated circulating aspartate aminotrans...	OMIM:614034
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Intestinal a...	ORPHA:3405
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint dislocation, Congenital hip dislocation, Dental crowding, Microcornea, Prematur...	OMIM:225400
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Refsum Disease	Microphthalmia, Dry skin, Cardiomyopathy	ORPHA:773
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Dilated cardiomyopathy, Erythema, Mitral valve prolapse, Abnormal cardiac septum mo...	ORPHA:2556
Microphthalmia, Syndromic 6	Single transverse palmar crease, Uplifted earlobe, Adrenal hypoplasia, Sclerocornea, Micrognathia...	OMIM:607932
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pul...	OMIM:618021
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Cold Agglutinin Disease	Pallor	ORPHA:56425
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Epistaxis, Thrombocyto...	OMIM:614074
Holoprosencephaly, Semilobar, With Craniosynostosis	Coxa valga, Hypoplastic vertebral bodies, Semilobar holoprosencephaly, Lambdoidal craniosynostosi...	OMIM:601370
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Wide nose, Cataract, Corneal opacity, Abnormality of cartilage of external ea...	ORPHA:2399
Duodenal Atresia	Polyhydramnios, Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary arter...	ORPHA:1203
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Thyroid Ectopia	Short stature, Abnormality of the thyroid gland, Jaundice, Growth delay, Macroglossia, Ectopic th...	ORPHA:95712
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Bilateral microphthalmos, Abnormal heart morphology, Umbilical hernia,...	ORPHA:369891
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Squamous cell ca...	ORPHA:2907
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Premature birth, Short femur, Dumbbell-shaped long bone, Micromelia, Rhizom...	ORPHA:440354
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointe...	ORPHA:227982
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Intellectual Developmental Disorder, Autosomal Dominant 29	Dental crowding, Synophrys, Cutaneous finger syndactyly, High palate, Lumbar hyperlordosis, Broad...	OMIM:616078
Meester-Loeys Syndrome	Joint dislocation, Abnormal sternum morphology, High palate, Joint contracture, Bifid uvula, Arac...	OMIM:300989
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t...	ORPHA:227990
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:251000
Muir-Torre Syndrome	Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla...	ORPHA:587
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Sclerocornea, Dila...	OMIM:300952
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Mckusick-Kaufman Syndrome	Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ...	ORPHA:2473
Pituicytoma	Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ...	ORPHA:251623
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Transient ischemic attack, Myocardial infarction, Schistocytosis, Microangiopath...	OMIM:274150
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Ehlers-Danlos Syndrome, Vascular Type	Premature delivery because of cervical insufficiency or membrane fragility, Nodular pattern on pu...	OMIM:130050
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia...	ORPHA:989
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Leukopenia,...	ORPHA:520
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Leukocytosis, Hypertension, Congenital thrombocytopenia, Anemia	OMIM:618886
Myoclonic-Astatic Epilepsy	Microphthalmia, Premature skin wrinkling	ORPHA:1942
Enlarged Parietal Foramina	Occipital encephalocele, Multiple exostoses, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft...	ORPHA:60015
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre...	OMIM:607326
3-Hydroxy-3-Methylglutaric Aciduria	Dilated cardiomyopathy, Pallor, Edema, Dehydration	ORPHA:20
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Short stature, Sparse eyelashes, Hypospadias, Bifid nasal tip, Pectus e...	OMIM:618874
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Venous insufficiency, Congestive heart failure, Visceral angiomatosis, Upper...	ORPHA:137608
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordos...	OMIM:620285
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Brachyolmia Type 2	Platyspondyly, Short stature	OMIM:613678
Angelman Syndrome	Abnormality of the gastrointestinal tract, Optic disc pallor, Keratoconus, Mandibular prognathia,...	ORPHA:72
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp...	OMIM:259450
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Proteasome-Associated Autoinflammatory Syndrome 2	B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia	OMIM:618048
Joubert Syndrome 8	Hepatomegaly, Occipital encephalocele, Optic disc pallor, Pigmentary retinopathy, Prolonged neona...	OMIM:612291
Spondyloepiphyseal Dysplasia, Kimberley Type	Proportionate short stature, Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal ep...	ORPHA:93283
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Situs inversus to...	OMIM:244400
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver...	ORPHA:2769
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Sepsis In Premature Infants	Edema, Pallor, Petechiae, Purpura	ORPHA:90051
Axenfeld-Rieger Syndrome	Anal stenosis, Posterior embryotoxon, Depressed nasal bridge, Hypospadias, Hypoplasia of the maxi...	ORPHA:782
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Xerostomia, Leukopenia, Tubulo...	ORPHA:289390
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:616622
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy...	ORPHA:99901
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Split hand, Hand monodactyly, Split foot, Retinopathy	OMIM:183800
Heart And Brain Malformation Syndrome	Microphthalmia, Ventricular septal defect, Polyhydramnios	OMIM:616920
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thrombocytopenia, Decreased proport...	ORPHA:79124
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Skeletal muscle atrophy, Polyhydramnios, Aortic rupture, Microcornea, Type 1 muscle f...	OMIM:614557
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short neck, Synophrys, Low anterior hairline, Irregular vertebral endplates, Posterior scalloping...	OMIM:610442
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos...	OMIM:208230
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Lymphadenopathy, Macrogl...	ORPHA:2221
Meier-Gorlin Syndrome 4	Short stature, Genu recurvatum, Micrognathia, Lateral clavicle hook, Cryptorchidism, Delayed skel...	OMIM:613804
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Tendon x...	OMIM:213700
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Abnormality of the dentition, Broad nasal tip, Hypoplasia of the maxilla, Osteolys...	ORPHA:2776
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin...	OMIM:613702
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Cleft lip, Anosm...	OMIM:612702
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B...	OMIM:615222
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Rhabdomyolysis, Stroke-like episod...	ORPHA:79095
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Gastroesophageal reflux, Small earlobe, Micropenis, Prom...	OMIM:613805
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen...	OMIM:618280
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Geroderma Osteodysplastica	Mandibular prognathia, Severe short stature, Recurrent fractures, Vertebral compression fracture,...	ORPHA:2078
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Keutel Syndrome	Sinusitis, Cartilaginous ossification of nose, Deep philtrum, Pulmonary artery hypoplasia, Emphys...	OMIM:245150
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Depressed nasal bridge, Hypoplasia of the maxilla, Sparse eyebrow, Widow's pe...	OMIM:167730
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemic pallor, Abnormal heart morphology	OMIM:600901
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Ulbright-Hodes Syndrome	Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomel...	ORPHA:3404
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytopenia, Splenomegaly, ...	ORPHA:64743
Pseudo-Torch Syndrome 2	Thrombocytopenia, Bradycardia, Cerebral hemorrhage	OMIM:617397
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cataract, Depressed nasal bridge, Anteverted nares, Premature birth, Protruding tongue, Low anter...	OMIM:618797
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Periodontitis, Clinodactyly of the 5th finger, Premature loss of teeth, Short phalanx...	OMIM:619269
Holoprosencephaly 1	Diabetes insipidus, Short stature, Adrenal hypoplasia, Proboscis, Alobar holoprosencephaly, Micro...	OMIM:236100
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Short statu...	OMIM:211600
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormal rib morphology, Slender long bone, Abnormal pelvic gi...	ORPHA:1506
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Boutonneuse Fever	Leukopenia, Vasculitis, Thrombocytopenia	ORPHA:83313
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Arachnodactyly, Iris hypopigmentation, Short stature, Abnormality of neutrophils, Hydro...	ORPHA:2720
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Bulbous nose, Postaxial hand polydactyly, Supernumerary tooth, Tongue...	OMIM:258850
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia, Intrauterine growth retardation	ORPHA:1915
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemi...	OMIM:615512
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Macroves...	OMIM:619127
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia	OMIM:615636
Microcephaly 13, Primary, Autosomal Recessive	Subglottic stenosis, Short stature, Prominent nose, Metaphyseal sclerosis, Micrognathia, Partial ...	OMIM:616051
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B...	ORPHA:400
47,Xyy Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin level, Abnormal br...	ORPHA:8
Solar Urticaria	Edema, Periorbital edema, Vertigo, Abnormal tongue morphology, Angioedema, Abnormal lip morpholog...	ORPHA:97230
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine...	OMIM:171400
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi...	OMIM:313400
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Laryngeal stenosis, Abnormal oral mucosa morphology, Edema, Renal cyst, Gastr...	ORPHA:79404
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint d...	OMIM:618395
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hyperopic astigmatism...	ORPHA:397973
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Short stature, Frontal balding, Hypoplasia of the maxilla, Bulbous nose, C...	ORPHA:93945
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Postax...	ORPHA:2519
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Splenomegaly, Osteolysis, Fused cervical v...	OMIM:612852
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Hyperlysinemia	Short stature, Craniosynostosis, Argininuria, Recurrent pneumonia, Depressed nasal ridge, Cystinu...	ORPHA:2203
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia...	ORPHA:508542
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat...	OMIM:209885
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid...	OMIM:619598
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila...	ORPHA:300573
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Abnormal T cell subset distribution, Anemia, He...	ORPHA:158048
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia, Hearing abnormality, Abnormality of the pulmonary artery	ORPHA:1065
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Accessory oral frenulum, Conical tooth, Complete atrioventricular canal de...	OMIM:619142
Joubert Syndrome 31	Molar tooth sign on MRI, Ventriculomegaly	OMIM:617761
Deafness-Craniofacial Syndrome	Short lingual frenulum, Underdeveloped nasal alae, Abnormality of the dentition, Patent ductus ar...	ORPHA:3241
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Bicuspid aortic valve	OMIM:243310
Acute Radiation Syndrome	Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia	ORPHA:454831
Full Nf2-Related Schwannomatosis	Astrocytoma, Brain stem compression, Wrist drop, Abnormal optic nerve morphology, Foot dorsiflexo...	ORPHA:637
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Overlap Myositis	Diabetes mellitus, Raynaud phenomenon, Hypertension, Leukopenia, Pulmonary arterial hypertension,...	ORPHA:206572
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemic pallor, Abnormal heart morphology	OMIM:227650
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Pseudohypoparathyroidism Type 1B	Calcinosis, Delayed eruption of teeth, Prolonged QT interval, Cataract, Depressed nasal bridge, D...	ORPHA:94089
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Erythema, Pallor	OMIM:308300
Joubert Syndrome 25	Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:616781
Lipodystrophy, Familial Partial, Type 7	Sparse hair, Lower limb muscle weakness, Narrow nasal ridge, Pulmonary arteriovenous malformation...	OMIM:606721
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Nonimmune hydrops fetalis, Abnor...	ORPHA:137667
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Abnormal cardiac septum morphology, Intrauterine growth retardation	ORPHA:1352
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parat...	ORPHA:2552
Mirizzi Syndrome	Elevated hepatic transaminase, Dark urine, Tachycardia, Pancreatitis, Jaundice, Cholesterol galls...	ORPHA:521219
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Abnormal aor...	ORPHA:3222
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Hypophosphatasia	Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormality of th...	ORPHA:436
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Unilateral renal agenesis, Cleft upper lip, Micrognathia, Ectopic kidney, Abnormal...	OMIM:601076
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Short stature, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Fla...	OMIM:271600
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Hypoplasia of the max...	OMIM:231070
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Livedoid Vasculopathy	Enlargement of the ankles, Diabetes mellitus, Telangiectasia of the skin, Abnormal capillary morp...	ORPHA:542643
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation	OMIM:614023
Hereditary Spherocytosis	Restrictive cardiomyopathy, Pallor, Skin ulcer	ORPHA:822
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Sparse scalp hair, Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal...	ORPHA:2003
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Thrombocytopenia	OMIM:617710
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Pulmonary venous hypertension, Anemia	ORPHA:90060
Tay-Sachs Disease	Pallor	OMIM:272800
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Panhypophysitis	Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc...	ORPHA:95513
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemopha...	OMIM:603553
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Grfoma	Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ...	ORPHA:97261
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t...	ORPHA:774
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Beemer-Ertbruggen Syndrome	Cryptorchidism, Thrombocytopenia	ORPHA:1237
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Aicardi-Goutieres Syndrome 1	Diabetes insipidus, Splenomegaly, Vasculitis, Cardiomyopathy, Hypothyroidism, Thrombocytopenia	OMIM:225750
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Intra...	ORPHA:853
Acrofacial Dysostosis, Cincinnati Type	Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus...	OMIM:616462
Felty Syndrome	Pericarditis, Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Thoracolaryngopelvic Dysplasia	Laryngeal stenosis, Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, ...	OMIM:187760
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia	OMIM:267700
Congenital Tracheomalacia	Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Prematu...	ORPHA:95430
Fanconi Anemia, Complementation Group C	Microphthalmia, Ventricular septal defect, Anemic pallor, Intrauterine growth retardation	OMIM:227645
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Holoprosencephaly 4	Median cleft lip and palate, Depressed nasal bridge, Median cleft lip, Absent nasal septal cartil...	OMIM:142946
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totali...	OMIM:616749
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Posteriorly rotated ears, Micrognathia, Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosa...	OMIM:620189
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu...	OMIM:214500
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Short stature, Short neck, Abnormality of the thyroid gland, Hemivertebrae, ...	ORPHA:2234
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Microphthalmia, Intrauterine growth retardation	ORPHA:2728
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Microphthalmia, Right ventricular hypertrophy	ORPHA:335
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Neutrop...	ORPHA:99827
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Short stature, Flexion contracture, Elbow flexion contracture, Femor...	OMIM:609220
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
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Griscelli Syndrome	Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils	ORPHA:381
Adenohypophysitis	Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc...	ORPHA:95512
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Diabetes mellitus, Zollinger-Ellison syndrome, Increased glucagon level...	ORPHA:438274
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Edema	ORPHA:329971
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Co...	ORPHA:391487
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Decreased muscle mass, Bowed humerus, Short stature, Kyphoscoliosis, Recurrent frac...	OMIM:616507
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Transient neutropenia, Ventricular septal defect, Bowing of the legs, Sensorineu...	OMIM:617107
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal stomach morphology, Decreased nerve conduction velocity, Abnormal ...	ORPHA:512
Kindler Epidermolysis Bullosa	Urethral stricture, Laryngeal stenosis, Flexion contracture, Gingivitis, Squamous cell carcinoma,...	ORPHA:2908
Microtia-Anotia	Holoprosencephaly, Anotia, Microtia	OMIM:600674
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Malabsorption, Xerostomia, Clubbing, Hematochezia, Hamartomatous polyposis, C...	OMIM:175500
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Premature birth, Accel...	OMIM:609152
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ...	OMIM:615706
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Blue Rubber Bleb Nevus	Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia	OMIM:112200
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Subglottic stenosis, Bicuspid aortic valve, Exaggerated cupid's bow, Tapered finger, M...	OMIM:614501
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Marden-Walker Syndrome	Microphthalmia, Dextrocardia, Intrauterine growth retardation	OMIM:248700
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Diffuse telangiectasia, Anemia	OMIM:170100
Melkersson-Rosenthal Syndrome	Facial palsy, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia...	ORPHA:2483
Elliptocytosis 1	Pallor	OMIM:611804
3P25.3 Microdeletion Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonic stenosis	ORPHA:435638
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Narrow mouth, Esophage...	ORPHA:89842
Igg4-Related Pachymeningitis	Abnormality of the cervical spine, Low back pain, Sinusitis, Eosinophilia, Abnormal spinal dura m...	ORPHA:449427
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Patent foramen ovale, Elevated circulating thyroid-stimulating hormone concentr...	OMIM:225250
Immunodeficiency 9	Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenesis imper...	OMIM:612782
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog...	OMIM:618641
Immunodeficiency 22	Pericarditis, Capillary leak, Anemia, Decreased proportion of CD4-positive helper T cells, Thromb...	OMIM:615758
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr...	OMIM:617052
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Micropenis, Spina bifida occulta, Sternocleidomastoid amyotrophy, Broad c...	ORPHA:488434
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Ivic Syndrome	Leukocytosis, Arrhythmia, Thrombocytopenia	ORPHA:2307
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Pancreatic fibrosis, Polyhydramnios, Postaxial polydactyly, L...	OMIM:615503
Bazex-Dupre-Christol Syndrome	Narrow nasal ridge, Underdeveloped nasal alae, Trichorrhexis nodosa, Furrowed tongue, Basal cell ...	OMIM:301845
Osteopetrosis, Autosomal Dominant 2	Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Abnormality of the vertebral endplat...	OMIM:166600
Good Syndrome	Abnormal leukocyte morphology, Diabetes mellitus, Thymoma, Anemia, Aplasia/Hypoplasia of the thym...	ORPHA:169105
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Pallor, Skin ulcer	ORPHA:231226
Kapur-Toriello Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Intrauterine growth retardation	OMIM:244300
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulocytopenia, Ste...	OMIM:557000
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Distal Deletion 19P	Low-set, posteriorly rotated ears, Long toe, Alopecia, Arachnodactyly, Ventricular septal defect,...	ORPHA:96129
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi...	OMIM:275200
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Synophrys, High palate...	OMIM:619777
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Skin ulcer	ORPHA:1806
Hereditary Pheochromocytoma-Paraganglioma	Aniridia, Pallor	ORPHA:29072
Alport Syndrome	Macular degeneration, Nephritis, Tubulointerstitial fibrosis, Diffuse leiomyomatosis, Posterior s...	ORPHA:63
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Cole-Carpenter Syndrome	Communicating hydrocephalus, Delayed eruption of teeth, Crumpled long bones, Bowing of the long b...	ORPHA:2050
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Back pain, Low back pain, Hyperintensity of MRI T2 signal of the sp...	ORPHA:79093
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def...	OMIM:613001
Microcephalic Primordial Dwarfism, Dauber Type	Subglottic stenosis, Short stature, Prominent nose, Delayed skeletal maturation, Abnormal carpal ...	ORPHA:319675
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Subglottic stenosis, Short stature, Anterior rib cupping, Thromb...	OMIM:617941
Thyroid Hypoplasia	Short stature, Jaundice, Growth delay, Macroglossia, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Temtamy Syndrome	Microphthalmia	OMIM:218340
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Prominent superficial veins, Telangiectasia of the skin, A...	ORPHA:75508
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Tricuspid regurgitation, Posteriorly rotated ears, Abnormal pinna morphology, ...	ORPHA:228396
Mesomelic Dysplasia, Kantaputra Type	Short stature, Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal r...	ORPHA:1836
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Intrauterine growth retardation	OMIM:616395
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormia...	OMIM:619638
Oculofaciocardiodental Syndrome	Microphthalmia, Abnormal cardiac septum morphology, Mitral valve prolapse	ORPHA:2712
Saethre-Chotzen Syndrome	Long nose, Hypoplasia of the maxilla, Low anterior hairline, Partial duplication of the distal ph...	OMIM:101400
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Alopecia, Cataract, Corneal dystrophy, Anorectal anomaly, Trach...	ORPHA:1839
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Severe short stature, Recurrent fractures, Carious teeth, O...	OMIM:126550
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Abnor...	ORPHA:79284
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal venous morphology, Telangiectasia of the skin, Macrodactyly, Abnormal cerebral vascular ...	ORPHA:276280
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Recurrent otitis media, Dextrocardia, Situs inversus totalis	OMIM:618948
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Thrombocytopenia, Splenomegaly, Leukopenia, Neutropenia, Hypertrophic c...	OMIM:617303
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Sparse facial hair, Decreased palmar creases, Decreased serum estradiol, Triphalangea...	ORPHA:2232
Osteogenesis Imperfecta, Type Xv	Short stature, Recurrent fractures, Hypoplasia of the pons, Thin ribs, Platyspondyly, Cerebellar ...	OMIM:615220
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Anemia, Neutropen...	OMIM:260400
Smith-Kingsmore Syndrome	Cryptorchidism, Thrombocytopenia	OMIM:616638
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Accelerated skeletal matura...	ORPHA:93317
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic...	ORPHA:1414
Hypophosphatemic Rickets, X-Linked Dominant	Bowing of the legs, Osteoarthritis, Bone pain, Trapezoidal distal femoral condyles, Femoral bowin...	OMIM:307800
Radio-Renal Syndrome	Multicystic kidney dysplasia, Severe short stature, Depressed nasal bridge, Micromelia, Short nec...	ORPHA:3015
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Pallor, Dehydration	ORPHA:2131
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Budd-Chiari syn...	OMIM:127550
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Melena, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Nasal polyposis, Abnormality of the ureter, Bile duct polyp, Rectal pro...	OMIM:175200
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Levator palpebrae s...	ORPHA:45358
Spastic Paraplegia 16, X-Linked	Facial hypotonia, Lower limb muscle weakness, Urinary incontinence, Hypoplasia of the maxilla, Ur...	OMIM:300266
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:614576
Clapo Syndrome	Macrodactyly, Lymphedema, Pectus excavatum, Hemihypertrophy of upper limb, Varicose veins, Capill...	ORPHA:168984
Noonan Syndrome 4	Thrombocytopenia, Hypertrophic cardiomyopathy, Pulmonic stenosis, Cryptorchidism	OMIM:610733
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Hypertension, Bradycardia, Hypot...	ORPHA:94093
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Abnormal brainstem m...	ORPHA:231160
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect	OMIM:619135
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Rodrigues Blindness	Microphthalmia	OMIM:268320
Lujo Hemorrhagic Fever	Shock, Myocarditis, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Bradycardia, Hypotensio...	ORPHA:319213
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short stature, Short neck, Ectopic kidney, Abnormal rib morphology, Low posterior hairline, Verte...	ORPHA:2578
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios	OMIM:613451
Lipoid Proteinosis	Recurrent respiratory infections, Nasal polyposis, Abnormal oral mucosa morphology, Abnormality o...	ORPHA:530
Whim Syndrome	Abnormal small intestine morphology, Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Res...	ORPHA:51636
Ppoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97278
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Tongue atrophy, Tongue fasciculations, Dysphagia	OMIM:613435
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor...	ORPHA:2771
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Micro...	ORPHA:244242
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Epistaxis, Thrombocytopenia, S...	ORPHA:167
Familial Bicuspid Aortic Valve	Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Abnormal heart morphology	OMIM:618571
Mucoepithelial Dysplasia, Hereditary	Fibrocystic lung disease, Cataract, Alopecia, Pneumonia, Eosinophilia, Erythematous oral mucosa, ...	OMIM:158310
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Prolactinoma	Osteopenia, Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated ...	ORPHA:2965
Avian Influenza	Congestive heart failure, Thrombocytopenia, Lymphopenia, Leukopenia	ORPHA:454836
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Proportionate short stature, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Hepatosplenomeg...	ORPHA:464329
Vexas Syndrome	Macrocytic anemia, Arteritis, Thrombocytopenia	OMIM:301054
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Cimdag Syndrome	Hepatomegaly, Cerebellar vermis hypoplasia, Retinal dystrophy, Microvesicular hepatic steatosis, ...	OMIM:619273
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Myocarditis, Increased circulating myelocyte count, Capillary leak, Hypotensi...	ORPHA:36234
Pediatric Systemic Lupus Erythematosus	Raynaud phenomenon, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Alg8-Cdg	Thrombocytopenia, Anemia	ORPHA:79325
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Sandal gap, Macrodactyly, Splenomegaly, Renal hypoplasia, Spinal dysraphism, Scoli...	OMIM:612918
Osteopetrosis, Autosomal Recessive 1	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	OMIM:259700
Beta-Thalassemia Major	Dilated cardiomyopathy, Pallor, Skin ulcer	ORPHA:231214
Aortic Valve Disease 1	Bicuspid aortic valve, Ventricular septal defect, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Geleophysic Dysplasia 3	Subglottic stenosis, Hepatomegaly, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares...	OMIM:617809
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Accelerated skeletal maturation, Thyrotoxicosis with diffuse goiter, Activating ...	ORPHA:424
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos...	OMIM:617718
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Idiopathic Hypereosinophilic Syndrome	Angioedema, Dilated cardiomyopathy, Myocardial eosinophilic infiltration, Joint swelling, Pallor,...	ORPHA:3260
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Thrombocytopenia	OMIM:613990
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cherry red spot of the macula, Hepatomegaly, Short stature, Autoimmune thrombocytopen...	ORPHA:77293
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Coxa valga, Pectus excavatum, Osteo...	OMIM:619131
Lowry-Wood Syndrome	Epiphyseal dysplasia, Brachydactyly, Abnormality of retinal pigmentation, Short stature, Abnormal...	ORPHA:1824
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio...	OMIM:182250
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Abnormal optic chiasm morp...	ORPHA:300373
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, ...	ORPHA:261250
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Microphthalmia	OMIM:619148
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Joint stif...	ORPHA:1300
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Infection-Related Hemolytic Uremic Syndrome	Edema, Myocarditis, Pleural empyema, Pallor, Generalized edema	ORPHA:544482
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Hypertension, Thrombocytopenia	OMIM:301050
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Giant platelets, Decr...	ORPHA:274
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:616271
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal ...	OMIM:113500
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Cataract, Band keratopathy, Asplenia, Primary adrenal insufficiency, H...	OMIM:269200
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Scaling skin	ORPHA:35173
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supern...	OMIM:100300
Milroy Disease	Predominantly lower limb lymphedema, Ankle swelling, Lymphedema, Pedal edema, Hydrocele testis, V...	ORPHA:79452
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia, Ventricular septal defect	ORPHA:251038
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy, Tongue atrophy, Vertigo, Loss of Purkinje cells in the cerebellar vermis...	ORPHA:276198
Neurotrophic Keratopathy	Diabetes mellitus, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal ede...	ORPHA:137596
Von Willebrand Disease	Deviation of finger, Venous insufficiency, Abnormal mitral valve morphology	ORPHA:903
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra...	ORPHA:340
Distal Renal Tubular Acidosis	Hypocitraturia, Bone pain, Renal cyst, Reduced bone mineral density, Dehydration, Nephrocalcinosi...	ORPHA:18
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Wilson Disease	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:905
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm...	OMIM:610188
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Fanconi Anemia, Complementation Group Q	Short stature, Absent thumb, Esophageal atresia, Biliary atresia, Primum atrial septal defect, An...	OMIM:615272
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating...	ORPHA:913
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Sensorineural hearing impairment, Elbow ...	OMIM:148210
Joubert Syndrome 39	Occipital encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Postaxial polydactyly, ...	OMIM:619562
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Abnormal tha...	ORPHA:467166
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Glucagonoma	Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno...	ORPHA:97280
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Hemivertebrae, Femoral bowing, Anteriorly placed anus, Choa...	OMIM:201750
Porphyria, Congenital Erythropoietic	Osteopenia, Increased fecal coproporphyrin 1, Conjunctivitis, Hepatomegaly, Hemolytic anemia, Alo...	OMIM:263700
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd...	ORPHA:91350
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Decreased fetal movement, Thymus hyperplasia, Arachnodactyly, Polyhydramnios, Micrognathia, Type ...	OMIM:619036
Aspartylglucosaminuria	Vacuolated lymphocytes, Neutropenia, Joint laxity, Hepatomegaly, Depressed nasal bridge, Antevert...	OMIM:208400
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ...	OMIM:232800
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia, Hepatosplenomeg...	ORPHA:505248
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Fanconi Anemia, Complementation Group D2	Microphthalmia, Anemic pallor, Abnormal heart morphology	OMIM:227646
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar...	OMIM:175050
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Atelis Syndrome 2	Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi...	OMIM:620185
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia...	OMIM:610377
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Spinocerebellar Ataxia 36	Cerebellar atrophy, Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations, Dysphagia, He...	OMIM:614153
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Isolated Anencephaly	Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal di...	ORPHA:563609
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Wide mouth, Mac...	OMIM:105830
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficiency anemia, Abnormality ...	ORPHA:97214
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia	ORPHA:3204
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra...	OMIM:131100
Menke-Hennekam Syndrome 2	Narrow nasal bridge, Thin upper lip vermilion, Depressed nasal bridge, Duodenal ulcer, Overlappin...	OMIM:618333
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Abnormality of the thyroid gland, Celiac disease, J...	ORPHA:186
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Ataxia-Telangiectasia	Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Short stature, Non-Hodgkin l...	OMIM:208900
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:3322
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephrogenic diabetes insipidus, Thrombocytopenia	OMIM:208085
Pituitary Apoplexy	Pallor	ORPHA:95613
9q subtelomeric deletion syndrome	Anteverted nares, Protruding tongue, Synophrys, Abnormal heart morphology, Short nose	DECIPHER:52
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Retinal dystrophy, Elongated sup...	ORPHA:370022
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Micro Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:2510
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Thrombocytopenia, Pulmonic stenosis, Cryptorchidism	OMIM:616737
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Multinodular goiter, Squamous cell carcinoma, Palmoplantar...	OMIM:618373
Loeys-Dietz Syndrome	Joint dislocation, Micrognathia, Orofacial cleft, Pectus carinatum, High palate, Bifid uvula, Ara...	ORPHA:60030
Diamond-Blackfan Anemia 21	Aortic regurgitation, Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Anteverted nares, Abnormal dental morphology, Slow-growing hai...	ORPHA:238468
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Splenomegaly, Leukopenia, Hyperchol...	OMIM:300972
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Pallor	OMIM:253280
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Metaphyseal widening, Tibial bowing, Barrel-shaped chest, Iris atrophy, Short stature...	OMIM:259770
Familial Multinodular Goiter	Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular...	ORPHA:276399
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:251290
Laterality Defects, Autosomal Dominant	Asplenia, Situs inversus totalis	OMIM:601086
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Dry skin	OMIM:601675
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia...	OMIM:609049
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Von Hippel-Lindau Disease	Myocarditis, Cardiomyopathy, Pallor, Macular edema	ORPHA:892
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Thin skin, Retin...	ORPHA:743
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Hypertension, Microangiopat...	ORPHA:90038
Treacher Collins Syndrome 2	Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, An...	OMIM:613717
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Cowden Syndrome 7	Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He...	OMIM:616858
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increa...	OMIM:166220
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an...	OMIM:259720
Autosomal Erythropoietic Protoporphyria	Edema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Ankle swelling, Edema of the dorsum of hands,...	ORPHA:568051
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Peripheral axonal neuropath...	ORPHA:2388
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal...	ORPHA:232
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
Pancreatic Colipase Deficiency	Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine panc...	ORPHA:309108
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Marburg Hemorrhagic Fever	Shock, Reticulocytosis, Tachycardia, Pericarditis, Lymphopenia, Orchitis, Hypovolemia, Neutrophil...	ORPHA:99826
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
Incontinentia Pigmenti	Erythema, Skin ulcer, Umbilical hernia, Microphthalmia, Spina bifida occulta	ORPHA:464
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Thin skin, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:745
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Coxa va...	OMIM:620099
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Sudden cardiac death, Abnormality of neutrophils, Myocardial infarct...	ORPHA:36426
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Short neck, Splenomegaly, Jaundice, Elevated circ...	OMIM:611881
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote...	OMIM:309000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Squamous cell...	ORPHA:79408
Deeah Syndrome	Decreased hemoglobin concentration, Anterior pituitary hypoplasia, Decreased response to growth h...	OMIM:619004
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Oligohydramnios	OMIM:251300
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Hypothyroidism, Congenital, Nongoitrous, 9	Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ...	OMIM:301035
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni...	OMIM:603903
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy...	ORPHA:3044
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Mandibular prognathia, Hypopigmentation of hair, Protruding ton...	ORPHA:98794
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr...	OMIM:619608
Q Fever	Pericarditis, Myocarditis, Thrombocytopenia, Vasculitis, Splenomegaly, Hepatosplenomegaly, Abnorm...	ORPHA:781
Joubert Syndrome 17	Abnormal retinal morphology, Postaxial polydactyly, Preaxial polydactyly, Molar tooth sign on MRI...	OMIM:614615
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hematemesis, Thrombocytopenia, Splenomegaly, Vasculitis, Hematoch...	OMIM:615846
Papillorenal Syndrome	Microphthalmia, Edema	OMIM:120330
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Leukocytosis, Oligoarthritis, Furrowed tongue...	OMIM:614204
Mogs-Cdg	Hepatosplenomegaly, Hydrocele testis, Inappropriate antidiuretic hormone secretion, Hypothyroidis...	ORPHA:79330
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Protruding tongue, Limb hypertonia, Hand clenching, Ventriculomegaly, Hearing...	OMIM:619580
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Yellow Fever	Shock, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, Pancreatic hyperplas...	ORPHA:99829
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hemolytic anemia, Edema	OMIM:177000
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Decreased heart rate variability, Thrombocytopenia, Cryptorch...	OMIM:619005
3Q29 Microdeletion Syndrome	Microphthalmia, Subvalvular aortic stenosis	ORPHA:65286
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia	OMIM:300752
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Alopecia, Corneal opacity, Craniosynostosis, Oral mucosal blisters,...	ORPHA:79396
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Bronchitis, Oral ulcer, T lymphocytopenia...	OMIM:619381
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor...	ORPHA:447
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Hydrocephalus, Conotruncal defect, Cleft palate, Anotia, Microtia	OMIM:243440
Shigellosis	Myocarditis, Leukocytosis, Hypovolemic shock, Microangiopathic hemolytic anemia, Splenic abscess,...	ORPHA:810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Thrombocytopenia	ORPHA:572798
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S...	OMIM:192445
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Hypoplastic nipples, Anemia	ORPHA:261323
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Gaucher Disease, Perinatal Lethal	Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly	OMIM:608013
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Microdon...	OMIM:305100
Lelis Syndrome	Mandibular prognathia, Carious teeth, Yellow nails, Palmoplantar hyperkeratosis, Furrowed tongue,...	ORPHA:140936
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Anemia, Delayed puberty, Pulmonary arterial hypertension, Thrombocyto...	ORPHA:77261
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Thrombocytopenia, Portal hypertension	OMIM:251880
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Sudden cardiac death, Anemia, Neutropenia, Thrombocytopenia	ORPHA:537
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis, Green urine	OMIM:614156
Granulomatosis With Polyangiitis	Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Local...	OMIM:608710
Castleman Disease	Restrictive cardiomyopathy, Thrombocytopenia, Decreased mean corpuscular volume, Anemia	ORPHA:160
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy...	OMIM:601346
Plague	Hepatomegaly, Tachycardia, Chapped lip, Mydriasis, Conjunctival hyperemia, Edema, Hematemesis, Sp...	ORPHA:707
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero...	ORPHA:209902
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Anemia, Intestinal bleeding, Gastrointestinal telangiectasia, Thrombocyto...	OMIM:612199
Spondylospinal Thoracic Dysostosis	Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, A...	OMIM:601809
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm	Celiac artery compression	OMIM:116870
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici...	ORPHA:99772
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Cryptorchidism...	OMIM:620005
Farber Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:333
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Alopecia, Short stature, Malabsorption, Corneal erosion, Abnormality...	ORPHA:37
Darier-White Disease	Enlargement of parotid gland, Palmar pits	OMIM:124200
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee...	ORPHA:98795
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee...	ORPHA:411511
Hartnup Disease	Abnormal urinary color, Short stature, Malabsorption, Gingivitis, Glossitis, Neutral hyperaminoac...	ORPHA:2116
Trichothiodystrophy	Ventricular septal defect, Bilateral microphthalmos, Cardiomyopathy, Umbilical hernia, Dry skin, ...	ORPHA:33364
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Abn...	ORPHA:284227
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic choles...	ORPHA:69663
Teebi-Shaltout Syndrome	Microphthalmia, Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology, Edema	ORPHA:97330
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Thoracoabdominal Syndrome	Omphalocele, Hypospadias, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arterio...	OMIM:313850
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Atrial septal defect, Microphthalmia, Histiocytoid c...	OMIM:309801
Dubowitz Syndrome	Hypoparathyroidism, Abnormality of neutrophils, Cryptorchidism, Acute lymphoblastic leukemia, Ane...	ORPHA:235
Czech Dysplasia	Narrow femoral neck, Osteochondroma, Short metacarpal, Flat capital femoral epiphysis, Short toe,...	OMIM:609162
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Edema, Por...	ORPHA:3202
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Pauci-Immune Glomerulonephritis	Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomerulonephritis, ...	ORPHA:93126
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Renal insufficiency, Congestive heart failure, Leukocytosis, Cheil...	ORPHA:247353
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula,...	OMIM:149000
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Lysinuric Protein Intolerance	Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia, Pulmonary hemorrhage	OMIM:222700
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:2714
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Rift Valley Fever	Hematemesis, Retinal hemorrhage, Melena, Anemia, Thrombocytopenia	ORPHA:319251
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty...	OMIM:119100
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, ...	ORPHA:470
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal brainstem morphology, Hypertension, Pollakisuria, Urinary bladder sphincter dysfunction,...	ORPHA:93256
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia	OMIM:230900
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Hypoglycosylation of alpha-dystroglycan, Cataract, Cerebellar vermis hypoplasia, Retinal dystroph...	ORPHA:370997
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Congenital Pulmonary Valvar Stenosis	Atrial septal defect, Laryngeal stenosis	ORPHA:3189
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypospadias, Decreased response to growt...	OMIM:180500
Brucellosis	Pericarditis, Transient ischemic attack, Hypersplenism, Myocarditis, Leukocytosis, Thrombocytopen...	ORPHA:1304
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnor...	ORPHA:88619
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu...	ORPHA:466650
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Plasminogen Deficiency, Type I	Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Gingival overgrowth,...	OMIM:217090
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Jaundice, Abnormal...	ORPHA:288
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation	OMIM:223370
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi...	ORPHA:1112
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytopenia, T...	OMIM:251260
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Mend Syndrome	Microphthalmia, Aortic valve stenosis, Abnormal heart morphology	ORPHA:401973
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Skeletal muscle atrophy, Myositis, Biliary atresia, Calf muscle hypertrophy, Proximal muscle weak...	ORPHA:565899
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia, Dry skin, Intrauterine growth retardation	OMIM:133540
Systemic Lupus Erythematosus	Hemolytic anemia, Raynaud phenomenon, Hypertension, Leukopenia, Thrombocytopenia	ORPHA:536
Pitt-Hopkins-Like Syndrome 2	Protruding tongue, Wide mouth, Gastroesophageal reflux, Scoliosis, Pulmonic stenosis	OMIM:614325
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Multiple Synostoses Syndrome 4	Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Oculodentodigital Dysplasia	Atrial septal defect, Microphthalmia	OMIM:164200
Fanconi Anemia, Complementation Group L	Microphthalmia, Intrauterine growth retardation	OMIM:614083
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Leptospirosis	Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage...	ORPHA:509
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal sacrum morphology, Abnormal...	ORPHA:3109
Roberts Syndrome	Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios	ORPHA:3103
Odontoonychodermal Dysplasia	Sparse scalp hair, Dry hair, Short nail, Sparse eyebrow, Palmoplantar hyperkeratosis, Abnormality...	OMIM:257980
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Abnormality of the endocrine system, Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Adrenal insufficiency, Hypotension, ...	ORPHA:90062
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death	OMIM:276822
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g...	ORPHA:1461
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia	ORPHA:647
Glomuvenous Malformation	Abnormality of the nasal cavity, Oral mucosa nodule, Gastrointestinal arteriovenous malformation,...	ORPHA:83454
Gaucher Disease	Pancytopenia, Splenomegaly, Anemia, Delayed puberty, Pulmonary arterial hypertension, Thrombocyto...	ORPHA:355
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cryptorchidism, Anemia, Leukopenia, Decreased testicular si...	OMIM:305000
Aicardi-Goutières Syndrome	Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Chronic lymphatic le...	ORPHA:51
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia, Bicuspid aortic valve	OMIM:309800
Cockayne Syndrome Type 3	Microphthalmia, Cardiomyopathy	ORPHA:90324
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Chand Syndrome	Curly hair, Short fifth metatarsal, Depressed nasal bridge, Hydroureter, Atelectasis, Cleft palat...	ORPHA:1401
Familial Cerebral Cavernous Malformation	Retinal cavernous angioma, Cerebral hemorrhage, Focal T2 hyperintense brainstem lesion, Focal T2 ...	ORPHA:221061
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia, Scoliosis	OMIM:619352
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Short stature, Abnormal dental morphology, Abnormality of the de...	ORPHA:158668
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Cockayne Syndrome	Microphthalmia, Premature skin wrinkling	ORPHA:191
Duodenal Atresia	Duodenal atresia	OMIM:223400
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Macrodactyly, Lymphedema, Varicose veins, Capillary malformation of the lip, Venous malformation	OMIM:613089
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hea...	OMIM:122880
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Aprosencephaly And Cerebellar Dysgenesis	Craniosynostosis, Micrognathia, Poorly formed metencephalon, Aprosencephaly, Talipes equinovarus,...	OMIM:601374
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Tukel Syndrome	Syndactyly, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone aplasia, P...	OMIM:609428
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Autosomal Dominant Kenny-Caffey Syndrome	Intrauterine growth retardation, Bilateral microphthalmos	ORPHA:93325
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Witteveen-Kolk Syndrome	Microphthalmia, Intrauterine growth retardation, Polyhydramnios, Branchial fistula	OMIM:613406
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Hypoplasminogenemia	Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Nephrolithiasis, Periodontitis, A...	ORPHA:722
Otosclerosis 10	Otosclerosis	OMIM:615589
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Goodpasture Syndrome	Pallor	OMIM:233450
Pachyonychia Congenita 3	Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Nail dystrophy, Palmar hyperk...	OMIM:615726
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Palpebral edema, Hypospadias, Micrognathia, Postnatal growth retardation, Wide mouth, Gastroesoph...	ORPHA:79350

Histopathology

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

There is no histopathology data for Psph

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

IMPC related publications

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

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Psph^{tm1a(EUCOMM)Hmgu}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Psph^{tm1a(EUCOMM)Hmgu}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Psph^{tm1a(EUCOMM)Hmgu}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Psph^{tm1a(EUCOMM)Hmgu}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Psph^{tm1a(EUCOMM)Hmgu}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Psph^{tm1a(EUCOMM)Hmgu}	PMC5159622

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MGI Allele	Allele Type	Produced
Psph^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Psph^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Psph^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Psph^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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: Psph MGI:97788

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

MicroCT E14.5-E15.5

Combined SHIRPA and Dysmorphology

Embryo LacZ

X-ray

Adult LacZ

Gross Morphology Embryo E14.5-E15.5

DSS Histology

Gross Pathology and Tissue Collection

Eye Morphology

Anti-nuclear antibody assay

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Psph mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data