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Gene: F2 MGI:88380

Gene Summary

Name:

coagulation factor II

Synonyms:

FII, Cf-2, thrombin, prothrombin, Cf2

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
preweaning lethality, incomplete penetrance	F2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
tremors	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.70×10^-06
increased circulating serum albumin level	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.49×10^-05
decreased exploration in new environment	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.48×10^-08
decreased lean body mass	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.18×10^-08
decreased mean corpuscular volume	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.99×10^-05
increased circulating fructosamine level	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.52×10^-05
decreased bone mineral content	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.15×10^-06
increased total body fat amount	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.84×10^-06

Download data as: TSV XLS

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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
Testis	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 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	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 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	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 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
Brain	N/A	heterozygote	0.0% (0 of 1)
Brain	N/A	homozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	0.0% (0 of 1)
Ear	N/A	homozygote	0.0% (0 of 1)
Embryo	N/A	heterozygote	100% (1 of 1)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	homozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	homozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	homozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	homozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	Ambiguous
Heart	N/A	homozygote	0.0% (0 of 1)
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindbrain	N/A	homozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	homozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	100% (1 of 1)
Liver	N/A	homozygote	100% (1 of 1)
Lung	N/A	heterozygote	0.0% (0 of 1)
Lung	N/A	homozygote	0.0% (0 of 1)
Mandibular process	N/A	heterozygote	0.0% (0 of 1)
Mandibular process	N/A	homozygote	0.0% (0 of 1)
Maxillary process	N/A	heterozygote	0.0% (0 of 1)
Maxillary process	N/A	homozygote	0.0% (0 of 1)
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Midbrain	N/A	homozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	0.0% (0 of 1)
Oral cavity	N/A	homozygote	0.0% (0 of 1)
Skin	N/A	heterozygote	0.0% (0 of 1)
Skin	N/A	homozygote	0.0% (0 of 1)
Tail somite	N/A	heterozygote	0.0% (0 of 1)
Tail somite	N/A	homozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	homozygote	0.0% (0 of 1)

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
esophagus	1.66% (7 of 422)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
olfactory lobe	0.33% (2 of 598)
oral epithelium	0.0%
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
vascular system	0.0%
white adipose tissue	0.0%

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

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

Anatomy	Background staining in controls(WT)
brain	1.17% (6 of 511)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

Associated Images

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

MicroCT E18.5

Embryo reconstruction

3 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Adult LacZ

LacZ Images Wholemount

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Immunophenotyping

Panel A FCS file(s)

8 Images

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Auditory Brain Stem Response

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

4 Images

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Immunophenotyping

Panel B FCS file(s)

8 Images

View images

Human diseases caused by F2 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 F2 (5 diseases)
Human diseases predicted to be associated with F2 (1019 diseases)

The table below shows human diseases associated to F2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Prothrombin Deficiency, Congenital	Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ...	OMIM:613679
Congenital Factor Ii Deficiency	Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr...	ORPHA:325
Stroke, Ischemic	Stroke	OMIM:601367
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Pregnancy Loss, Recurrent, Susceptibility To, 2		OMIM:614390

The table below shows human diseases predicted to be associated to F2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time, Abnormal bleeding	OMIM:314560
Tatsumi Factor Deficiency	Prolonged bleeding time, Abnormal bleeding	OMIM:272650
Athrombia, Essential	Prolonged bleeding time, Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhe...	OMIM:209050
Pseudo-Von Willebrand Disease	Prolonged bleeding time	OMIM:177820
Bleeding Disorder, Platelet-Type, 18	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru...	OMIM:615888
Glanzmann Thrombasthenia 2	Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ...	OMIM:619267
Bleeding Disorder, Platelet-Type, 14	Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis	OMIM:614158
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Abnormal bleeding	OMIM:608404
Bleeding Disorder, Platelet-Type, 11	Bruising susceptibility, Ecchymosis, Epistaxis, Impaired collagen-induced platelet aggregation, M...	OMIM:614201
Glanzmann Thrombasthenia 1	Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Purpura, Imp...	OMIM:273800
Glanzmann Thrombasthenia	Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced...	ORPHA:849
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Factor V Deficiency	Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P...	OMIM:227400
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Glycoprotein Storage Disease	Gout	OMIM:232900
Osteoarthritis Susceptibility 3	Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j...	OMIM:607850
Bernard-Soulier Syndrome	Prolonged bleeding after surgery, Abnormal bleeding, Purpura, Epistaxis, Gingival bleeding, Menor...	OMIM:231200
Episodic Ataxia, Type 1	Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas...	OMIM:160120
Aneurysm, Intracranial Berry, 12	Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno...	OMIM:618734
Platelet Disorder, Undefined	Prolonged bleeding time, Abnormal bleeding, Impaired platelet aggregation	OMIM:173420
Platelet Aggregation, Spontaneous	Spontaneous platelet aggregation, Abnormal platelet function	OMIM:173400
Prothrombin Deficiency, Congenital	Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ...	OMIM:613679
Von Willebrand Disease, Type 3	Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc...	OMIM:277480
Afibrinogenemia, Congenital	Death in infancy, Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Brui...	OMIM:202400
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis...	OMIM:609821
Internal Carotid Absence	Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia	ORPHA:981
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Aneurysm, Intracranial Berry, 1	Dilatation of the cerebral artery, Intracranial hemorrhage	OMIM:105800
Aneurysm, Intracranial Berry, 2	Cerebral berry aneurysm, Subarachnoid hemorrhage	OMIM:608542
Plasma Clot Retraction Factor, Deficiency Of	Bruising susceptibility, Poor wound healing, Gastrointestinal hemorrhage	OMIM:262800
Acute Peripheral Arterial Occlusion	Supraventricular tachycardia, Pallor, Myocardial infarction, Abnormality of venous physiology, St...	ORPHA:90064
Sandhoff Disease, Adult Form	Gait ataxia, Spasticity, Anxiety, Elevated circulating creatine kinase concentration, Focal dysto...	ORPHA:309169
Bleeding Disorder, Platelet-Type, 22	Excessive bleeding from superficial cuts, Impaired platelet aggregation, Subcutaneous hemorrhage	OMIM:618462
Hermansky-Pudlak Syndrome 7	Post-partum hemorrhage, Impaired platelet aggregation, Bruising susceptibility, Epistaxis, Menorr...	OMIM:614076
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Flexion contracture, Cognitive impairment, Ataxia, Babinski sign, Tremor	OMIM:611105
Immune Thrombocytopenia	Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G...	ORPHA:3002
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel...	OMIM:155100
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl...	OMIM:614561
Cardiomyopathy, Dilated, 2G	Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti...	OMIM:619897
Familial Cervical Artery Dissection	Striae distensae, Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia,...	ORPHA:36382
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints	ORPHA:50809
Storage Pool Platelet Disease	Prolonged bleeding time, Abnormal bleeding	OMIM:185050
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Cognitive impairment, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, ...	ORPHA:401901
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Autoimmunity, Nephritis	OMIM:216950
Hemophilia B	Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom...	ORPHA:98879
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Purpura Simplex	Epistaxis, Menorrhagia, Purpura, Bruising susceptibility	OMIM:179000
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Pulmonary embolism, Warfarin-induced skin necrosis, Purpura	OMIM:612336
Factor Xiii, B Subunit, Deficiency Of	Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolon...	OMIM:613235
Thrombocytopenia, Paris-Trousseau Type	Prolonged bleeding time, Abnormal bleeding	OMIM:188025
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Abnormal pyramidal sign, Cognitive impairment, Motor deterioration, Clumsiness, Abnor...	ORPHA:79262
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	OMIM:609655
Cerebral Cavernous Malformations	Intracranial hemorrhage, Cerebral cavernous malformation	OMIM:116860
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility,...	OMIM:614009
Fetal And Neonatal Alloimmune Thrombocytopenia	Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Gast...	ORPHA:853
Primary Orthostatic Tremor	Abnormality of extrapyramidal motor function, Tremor	ORPHA:238606
Developmental Dysplasia Of The Hip 2	Arthritis, Hip osteoarthritis	OMIM:615612
Von Willebrand Disease, Type 1	Persistent bleeding after trauma, Impaired platelet aggregation, Bruising susceptibility, Epistax...	OMIM:193400
Gray Platelet Syndrome	Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaired collagen-induced platelet aggrega...	OMIM:139090
Angel-Shaped Phalangoepiphyseal Dysplasia	Premature osteoarthritis, Delayed ossification of carpal bones, Hyperextensibility of the finger ...	OMIM:105835
Congenital Factor Xiii Deficiency	Subcutaneous hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Post-partum hemo...	ORPHA:331
Cutaneous Small Vessel Vasculitis	Purpura, Cutis marmorata, Erythema, Urticaria, Vasculitis	ORPHA:889
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastroesophageal reflux, Poor suck, Nausea and vomiting, Abnormal large intestine morphology, Poo...	ORPHA:2198
Huntington Disease-Like 2	Chorea, Inertia, Weight loss, Rigidity, Apathy, Dementia, Dystonia, Action tremor, Subcortical de...	OMIM:606438
Congenital Factor V Deficiency	Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce...	ORPHA:326
Dystonia 11, Myoclonic	Anxiety, Writer's cramp, Torticollis, Myoclonus, Tremor, Panic attack, Agoraphobia	OMIM:159900
Bleeding Disorder, Platelet-Type, 17	Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept...	OMIM:187900
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage	OMIM:603284
Cerebral Amyloid Angiopathy, Cst3-Related	Stroke, Intracranial hemorrhage, Cerebral hemorrhage	OMIM:105150
Epidermolysis Bullosa Simplex 5A, Ogna Type	Bruising susceptibility, Skin fragility with non-scarring blistering	OMIM:131950
Atypical Pantothenate Kinase-Associated Neurodegeneration	Chorea, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Inertia, Parkinsonism, Rigidit...	ORPHA:216873
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Kienbock Disease	Osteochondritis dissecans, Osteoarthritis, Abnormality of the wrist, Limitation of joint mobility	ORPHA:97332
Primary Dystonia, Dyt27 Type	Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action...	ORPHA:464440
Familial Hypofibrinogenemia	Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage	ORPHA:101041
Familial Dysfibrinogenemia	Epistaxis, Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage	ORPHA:98881
Episodic Ataxia With Slurred Speech	Gait ataxia, Slurred speech, Tremor	ORPHA:401953
Factor Xiii, A Subunit, Deficiency Of	Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran...	OMIM:613225
Abetal34V Amyloidosis	Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology	ORPHA:324703
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Pulmonary embolism, Purpura, Cerebral hemorrhage	OMIM:614514
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Dystonia 27	Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni...	OMIM:616411
Orthostatic Hypotensive Disorder, Streeten Type	Facial erythema, Orthostatic hypotension, Syncope, Bruising susceptibility	OMIM:143850
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Gait ataxia, Chorea, Cognitive impairment, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Demen...	OMIM:208920
Mitochondrial Complex I Deficiency, Nuclear Type 30	Redundant skin, Neonatal death, Congestive heart failure	OMIM:301021
Complement Component 4A Deficiency	Cutaneous photosensitivity, Purpura, Vasculitis	OMIM:614380
Spinocerebellar Ataxia Type 15/16	Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t...	ORPHA:98769
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Hemolytic anemia, Choreoathetosis, Reticulocytosis, Ataxia, Tremor, Ir...	OMIM:612126
Ataxia-Oculomotor Apraxia 4	Abnormal pyramidal sign, Cognitive impairment, Tetraplegia, Oculomotor apraxia, Ataxia, Elevated ...	OMIM:616267
Familial Afibrinogenemia	Cerebral hemorrhage, Abnormal bleeding, Miscarriage, Epistaxis, Gingival bleeding	ORPHA:98880
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Petechiae, Spontaneous, recurrent epistaxis, Abnormal bl...	ORPHA:274
Slc35A1-Cdg	Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Prolonged bleeding time, Pneumonia	ORPHA:238459
Hyperphenylalaninemia, Bh4-Deficient, D	Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia	OMIM:264070
Tremor, Hereditary Essential, 6	Vocal tremor, Head tremor, Kinetic tremor, Postural tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Thrombocytopenia With Beta-Thalassemia, X-Linked	Bruising susceptibility, Prolonged bleeding time, Epistaxis, Petechiae	OMIM:314050
Congenital Factor X Deficiency	Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ...	ORPHA:328
Blue Rubber Bleb Nevus	Prolonged bleeding time, Skin rash, Intestinal bleeding	ORPHA:1059
Reversible Cerebral Vasoconstriction Syndrome	Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transient ischemic att...	ORPHA:284388
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Poor wound healing, Hemoperitoneum, Subcutaneous hemorrhage, Post-partum hemorrhage, Epidural hem...	ORPHA:465
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Petechiae, Bruising susceptibility, Erythema, Vascular skin ...	ORPHA:280779
Primary Dystonia, Dyt13 Type	Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra...	ORPHA:98807
Snakebite Envenomation	Hypotension, Neuromuscular dysphagia, Vomiting, Diarrhea, Cerebral ischemia, Cardiogenic shock, P...	ORPHA:449285
Familial Cerebral Saccular Aneurysm	Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Hypert...	ORPHA:231160
Spinocerebellar Ataxia 43	Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor	OMIM:617018
Congenital Factor Ii Deficiency	Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr...	ORPHA:325
Congenital Factor Vii Deficiency	Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble...	ORPHA:327
Analbuminemia	Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr...	OMIM:616000
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Choreoathetosis, Hyperphenylalaninemia, Tremor, Progressive neurologic deterioration, ...	OMIM:261630
Acquired Purpura Fulminans	Macular purpura, Hepatic failure, Pyoderma gangrenosum, Acrocyanosis, Intracranial hemorrhage, In...	ORPHA:49566
Spinocerebellar Ataxia 20	Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor	OMIM:608687
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Diarrhea, Vasculitis, Abdominal pain, Acrocyanosis, Purpura, Intes...	ORPHA:343
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Bruising susceptibility	OMIM:137560
Spinocerebellar Ataxia Type 28	Gait ataxia, Spasticity, Cognitive impairment, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia...	ORPHA:101109
Factor Vii Deficiency	Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol...	OMIM:227500
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Mental deterioratio...	OMIM:615924
Basal Ganglia Calcification, Idiopathic, 1	Abnormal circulating calcium concentration, Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, ...	OMIM:213600
Platelet Signal Processing Defect	Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel...	OMIM:173590
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism, Skin ulcer, Purpura, Subcutaneous hemorrhage	ORPHA:743
Iga Nephropathy, Susceptibility To, 1	Purpura, Hypertension	OMIM:161950
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Roch-Leri Mesosomatous Lipomatosis	Purpura	ORPHA:529
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto...	OMIM:314250
Ehlers-Danlos Syndrome, Periodontal Type, 2	Bruising susceptibility, Prominent superficial veins, Fragile skin, Colon cancer, Gingival bleedi...	OMIM:617174
Complement Component 2 Deficiency	Purpura	OMIM:217000
Spinocerebellar Ataxia Type 12	Poor fine motor coordination, Abnormal pyramidal sign, Cognitive impairment, Tremor by anatomical...	ORPHA:98762
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim...	OMIM:605407
Klippel-Trénaunay Syndrome	Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Congestive heart failure, Atrial s...	ORPHA:90308
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Epistaxis, Prolonged bleeding time, Impaired platelet aggregation, Bruising susceptibility	OMIM:601399
Dystonia, Dopa-Responsive	Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor...	OMIM:128230
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Tremor, Elevated circulating creatine kinase concentration	OMIM:615048
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia, Mental deterioration	OMIM:616187
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage	OMIM:106070
Isolated Polycystic Liver Disease	Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, G...	ORPHA:2924
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Abnormal pyramidal sign, Postural tremor, Oculomotor apraxia, Choreoathetosis, Ataxia, Elevated c...	ORPHA:64753
Spinocerebellar Ataxia 48	Gait ataxia, Chorea, Anxiety, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, M...	OMIM:618093
Fibrinolytic Defect	Spontaneous hematomas	OMIM:134900
Abeta Amyloidosis, Iowa Type	Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology	ORPHA:324708
Combined Deficiency Of Factor V And Factor Viii	Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc...	ORPHA:35909
Primary Release Disorder Of Platelets	Spontaneous, recurrent epistaxis, Menorrhagia, Abnormal bleeding, Bruising susceptibility	OMIM:176630
Dengue Fever	Hypotension, Diarrhea, Cerebral hemorrhage, Petechiae, Nausea and vomiting, Abdominal pain, Bruis...	ORPHA:99828
Migraine, Familial Hemiplegic, 1	Hemiparesis, Ataxia, Hemiplegia, Tremor, Anxiety	OMIM:141500
Cryoglobulinemic Vasculitis	Petechiae, Abdominal pain, Skin ulcer, Purpura, Cutis marmorata, Gastrointestinal hemorrhage, Gas...	ORPHA:91138
Tremor, Hereditary Essential, 1	Hand tremor, Action tremor, Postural tremor	OMIM:190300
Thrombocytopenia 2	Bruising susceptibility	OMIM:188000
Bleeding Disorder, Platelet-Type, 9	Bruising susceptibility	OMIM:614200
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism, Warfarin-induced skin necrosis, Purpura	ORPHA:745
Malignant Atrophic Papulosis	Pleural effusion, Gastrointestinal infarctions, Constrictive pericarditis, Gastrointestinal hemor...	OMIM:602248
Neurodegeneration With Brain Iron Accumulation 3	Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Emoti...	OMIM:606159
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Emotional lability, Babinsk...	OMIM:615362
Intrinsic Factor Deficiency	Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean...	OMIM:261000
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Wrist flexion contracture, Congenital finger flexion contractures, Synovial hypertrophy, Arthropa...	OMIM:208250
Spinocerebellar Ataxia 12	Dysdiadochokinesis, Parkinsonism, Dementia, Dysmetria, Head tremor, Axial dystonia, Action tremor...	OMIM:604326
Moderate Hemophilia A	Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Bleedin...	ORPHA:169805
Eosinophilic Granulomatosis With Polyangiitis	Endocarditis, Abnormal pericardium morphology, Gastroesophageal reflux, Nausea and vomiting, Tran...	ORPHA:183
Factor X Deficiency	Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P...	OMIM:227600
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Myoclonus, Failure to thrive, Tremor, Anxiety, Dystonia	OMIM:619651
Neuronopathy, Distal Hereditary Motor, Type Viia	Vocal cord paresis, Tremor, Vocal cord paralysis	OMIM:158580
Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable...	OMIM:260300
Corticobasal Syndrome	Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Dementia, T...	ORPHA:454887
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Bruising susceptibility, Nephritis, Menorrhagia, Prolonged blee...	ORPHA:182050
Classical-Like Ehlers-Danlos Syndrome Type 1	Mitral valve prolapse, Bruising susceptibility, Spina bifida occulta, Gastrointestinal hemorrhage...	ORPHA:230839
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time	ORPHA:638
Acquired Von Willebrand Syndrome	Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, ...	ORPHA:99147
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Hypermanganesemia, Ankle clonus, Multiple joint contractures, Parkinsonism, Babinski ...	ORPHA:521406
Spinocerebellar Ataxia Type 20	Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax...	ORPHA:101110
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Ankle clonus, Cognitive impairment, Truncal ataxia, Limb ataxia, Babinski sign, Tremor	OMIM:615768
Sickle Cell Anemia	Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ...	ORPHA:232
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Increased VLDL cholesterol concentrat...	OMIM:267700
Severe Hemophilia A	Poor wound healing, Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhag...	ORPHA:169802
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Craniosynostosis, Hypoalbuminemia	ORPHA:88643
Spinocerebellar Ataxia, Autosomal Recessive 4	Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ...	OMIM:607317
Saccharopinuria	Gait ataxia, Hyperlysinemia, Cognitive impairment, Spastic diplegia, Abnormality of circulating e...	ORPHA:3124
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Subcutaneous hemorrhage	ORPHA:1980
Hemophilia A	Intracranial hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Gastrointestinal...	ORPHA:98878
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Cognitive impairment, Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response ...	ORPHA:314632
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia	OMIM:618425
Acute Promyelocytic Leukemia	Petechiae, Abdominal pain, Purpura, Abnormal bleeding, Diffuse alveolar hemorrhage, Bruising susc...	ORPHA:520
Spinocerebellar Ataxia 40	Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In...	OMIM:616053
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Dementia, Anxiety, Dystonia, Bradykinesia	OMIM:605909
Neuroendocrine Tumor Of The Rectum	Hypotension, Bloody diarrhea, Facial telangiectasia, Tricuspid regurgitation, Abdominal pain, Hyp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hypotension, Bloody diarrhea, Facial telangiectasia, Tricuspid regurgitation, Abdominal pain, Hyp...	ORPHA:100082
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole...	OMIM:619868
Evans Syndrome	Petechiae, Jaundice, Syncope, Bruising susceptibility, Pallor, Epistaxis	ORPHA:1959
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired collagen-related peptide-induced platelet aggregation, Petechiae, Impaired ADP-induced p...	OMIM:153670
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper...	OMIM:616689
Hermansky-Pudlak Syndrome 6	Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis...	OMIM:614075
Progressive Supranuclear Palsy-Corticobasal Syndrome	Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigidity, Limb apraxia, Apraxia, ...	ORPHA:240103
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation	OMIM:613112
Hemochromatosis, Type 3	Purpura, Cardiomyopathy	OMIM:604250
Bleeding Disorder In Hemophilia A Carriers	Post-partum hemorrhage, Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged bleeding...	ORPHA:177926
Spinocerebellar Ataxia Type 31	Gait ataxia, Spasticity, Tremor	ORPHA:217012
Dystonia 12	Parkinsonism, Torticollis, Emotional lability, Tremor, Anxiety, Dystonia, Bradykinesia	OMIM:128235
Waldenström Macroglobulinemia	Retinal hemorrhage, Pedal edema, Diarrhea, Malabsorption, Vasculitis, Purpura, Cutis marmorata, C...	ORPHA:33226
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements	OMIM:616921
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Hermansky-Pudlak Syndrome 1	Abdominal pain, Bruising susceptibility, Ecchymosis, Epistaxis, Inflammation of the large intesti...	OMIM:203300
Thrombocytopenia 5	Bruising susceptibility, Epistaxis, Petechiae	OMIM:616216
Hermansky-Pudlak Syndrome 5	Impaired ADP-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagia, Prolo...	OMIM:614074
Portal Hypertension, Noncirrhotic, 2	Petechiae, Esophageal varix, Hepatocellular carcinoma, Ecchymosis, Epistaxis, Portal hypertension...	OMIM:619463
Dystonia 28, Childhood-Onset	Retrocollis, Spasticity, Cognitive impairment, Torticollis, Myoclonus, Tremor, Craniofacial dysto...	OMIM:617284
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure, Pallor, Stroke	ORPHA:49827
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged...	OMIM:277450
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Arthritis, Limitation of joint mobility, Joint swelling, Chondrocalcinosis, Os...	ORPHA:1416
Congenital Fibrinogen Deficiency	Cyanosis, Subcutaneous hemorrhage, Volvulus, Abnormal umbilical stump bleeding, Abdominal pain, A...	ORPHA:335
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Vascular Hyalinosis	Diarrhea, Premature graying of hair, Malabsorption, Protein-losing enteropathy, Subarachnoid hemo...	OMIM:277175
Congenital Alpha2-Antiplasmin Deficiency	Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin...	ORPHA:79
Dehydrated Hereditary Stomatocytosis	Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly...	ORPHA:3202
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Anxiety, Rigidity, Apathy, Parkinsonism with favorable response to dopaminergic medication, Tremo...	ORPHA:240085
Cerebral Amyloid Angiopathy, App-Related	Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorr...	OMIM:605714
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,...	ORPHA:251282
Solitary Rectal Ulcer Syndrome	Episodic abdominal pain, Bloody diarrhea, Intermittent diarrhea, Rectal prolapse, Stercoral ulcer...	ORPHA:209964
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Lower Motor Neuron Syndrome With Late-Adult Onset	Upper motor neuron dysfunction, Elevated circulating creatine kinase concentration, Increased int...	ORPHA:276435
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Bruising susceptibility, Mitral valve prolapse, Striae distensae, Petechiae	OMIM:225310
Stroke, Ischemic	Stroke	OMIM:601367
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Ataxia, Hypercholesterolemia	OMIM:607250
Wiskott-Aldrich Syndrome	Sudden cardiac death, Chronic diarrhea, Petechiae, Vasculitis, Skin ulcer, Purpura, Intracranial ...	ORPHA:906
Diffuse Cutaneous Mastocytosis	Hypotension, Darier's sign, Peau d'orange, Vomiting, Diarrhea, Dermatographic urticaria, Abdomina...	ORPHA:79456
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Fetal Gaucher Disease	Neonatal death, Intracranial hemorrhage, Stillbirth, Death in infancy	ORPHA:85212
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ...	ORPHA:136
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Premature graying of hair, Retinal telangiectasia, Gastrointestinal hemorrhage, Esophageal varix,...	OMIM:617341
Wild Type Abeta2M Amyloidosis	Congestive heart failure, Arrhythmia, Abnormal intestine morphology, Gastrointestinal hemorrhage,...	ORPHA:85446
Spinocerebellar Ataxia Type 14	Gait ataxia, Cognitive impairment, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebell...	ORPHA:98763
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Abdominal pain, Raynaud phenomenon, Purpura, Congestiv...	ORPHA:91139
Craniofaciofrontodigital Syndrome	Polyhydramnios, Palmoplantar cutis laxa, Pericardial effusion, Persistent fetal circulation, Vent...	ORPHA:363705
Congenital Bile Acid Synthesis Defect Type 1	Malabsorption, Jaundice, Abnormal bleeding, Gastrointestinal hemorrhage	ORPHA:79301
Anti-Glomerular Basement Membrane Disease	Purpura, Vasculitis	ORPHA:375
Immunoglobulin A Vasculitis	Nausea and vomiting, Vasculitis, Skin ulcer, Purpura, Abdominal pain, Bruising susceptibility, Ed...	ORPHA:761
Congenital Factor Xi Deficiency	Abnormal bleeding, Epistaxis, Menorrhagia, Gastrointestinal hemorrhage, Prolonged bleeding after ...	ORPHA:329
Familial Multiple Nevi Flammei	Pulmonary embolism, Arteriovenous malformation, Skin ulcer, Intracranial hemorrhage, Venous insuf...	ORPHA:624
Mixed Connective Tissue Disease	Pulmonary arterial hypertension, Gastroesophageal reflux, Purpura, Pericarditis, Gastritis, Xeros...	ORPHA:809
Ménétrier Disease	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ...	ORPHA:2494
Hereditary Amyloidosis With Primary Renal Involvement	Gastroesophageal reflux, Intestinal perforation, Vomiting, Diarrhea, Petechiae, Abnormality of th...	ORPHA:85450
Bleeding Disorder, Platelet-Type, 12	Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Intestinal bleeding, Menorrhag...	OMIM:605735
Epilepsy, Progressive Myoclonic, 6	Myoclonus, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Memory impairment	OMIM:614018
Hyperphenylalaninemia, Bh4-Deficient, A	Limb hypertonia, Parkinsonism, Small for gestational age, Rigidity, Choreoathetosis, Hyperphenyla...	OMIM:261640
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Abdominal pain, Hematochezia, Diarrhea	OMIM:191390
Sneddon Syndrome	Hypertension, Intracranial hemorrhage, Arterial stenosis	ORPHA:820
Diarrhea 7, Protein-Losing Enteropathy Type	Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Spastic Ataxia 2, Autosomal Recessive	Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t...	OMIM:611302
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Anemia, Pancytopenia, Failure to thrive, Increased circulating...	OMIM:616050
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypoalbu...	OMIM:613752
Ehlers-Danlos Syndrome, Classic Type, 2	Fragile skin, Bruising susceptibility	OMIM:130010
Spinocerebellar Ataxia 38	Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor	OMIM:615957
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Osteoarthritis, Hip osteoarthritis	OMIM:271600
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Spastic dysarthria, Hypoalbuminemia, Ataxia, Hypercholesterolemia	ORPHA:94124
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Aggressive behavior, Oculomotor apraxia, Choreoathetosis, Ataxia, Transient hyperphen...	OMIM:612716
Ganglioneuroma	Episodic abdominal pain, Colorectal polyposis, Multiple intestinal neurofibromatosis, Hypertensio...	ORPHA:251992
Cap Polyposis	Atrophic gastritis, Colorectal polyposis, Diarrhea, Abdominal pain, Abdominal distention, Constip...	ORPHA:160148
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Refractory Celiac Disease	Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio...	ORPHA:398063
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Rigidity, Tremor, Thrombocytopenia, Irritability, Dystonia, Splenomegaly	OMIM:615010
Microscopic Polyangiitis	Diarrhea, Subcutaneous hemorrhage, Nausea and vomiting, Abdominal pain, Skin ulcer, Cutis marmora...	ORPHA:727
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor	OMIM:612437
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Myoclonus, Tremor, Dystonia, Frequent falls	OMIM:619647
Inflammatory Bowel Disease 28, Autosomal Recessive	Crohn's disease, Enterocolitis, Perianal abscess, Colitis, Hematochezia	OMIM:613148
Autoerythrocyte Sensitization Syndrome	Vomiting, Diarrhea, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Edem...	ORPHA:324636
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Impaired platelet aggregation, Petechiae	OMIM:187800
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Gait ataxia, Abnormal pyramidal sign, Cognitive impairment, Dysdiadochokinesis, Oculomotor apraxi...	OMIM:617145
X-Linked Ehlers-Danlos Syndrome	Bruising susceptibility, Gastroesophageal reflux, Umbilical hernia	ORPHA:75497
Gaucher Disease, Perinatal Lethal	Polyhydramnios, Hepatic failure, Petechiae, Purpura, Nonimmune hydrops fetalis, Dysphagia, Cardio...	OMIM:608013
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Hemiballismus, Frequent falls	ORPHA:494526
Sepsis In Premature Infants	Cyanosis, Hypotension, Vomiting, Enterocolitis, Diarrhea, Petechiae, Functional abnormality of th...	ORPHA:90051
Primary Myelofibrosis	Petechiae, Abnormal bleeding, Purpura, Ecchymosis, Pallor, Anorexia, Portal hypertension	ORPHA:824
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Bleeding Disorder, Platelet-Type, 19	Epistaxis, Abnormal bleeding, Spontaneous hematomas, Menorrhagia	OMIM:616176
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Irritability, Pancytopenia, Hepatospl...	OMIM:603553
Immunodeficiency, Common Variable, 6	Purpura	OMIM:613496
Spinocerebellar Ataxia 7	Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo...	OMIM:164500
Lujo Hemorrhagic Fever	Hypotension, Cerebral edema, Myocarditis, Dysphagia, Diarrhea, Vomiting, Fulminant hepatitis, Abd...	ORPHA:319213
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Retinal hemorrhage, Bloody diarrhea, Vitreous hemorrhage, Morphological abnormality of the gastro...	ORPHA:464321
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia, Memory impairment	ORPHA:79234
Bleeding Disorder, Platelet-Type, 20	Epistaxis, Menorrhagia, Bruising susceptibility	OMIM:616913
Cerebral Creatine Deficiency Syndrome 2	Aggressive behavior, Rigidity, Paraparesis, Myoclonus, Decreased serum creatinine, Elevated circu...	OMIM:612736
Von Willebrand Disease, Type 2	Epistaxis, Menorrhagia, Bruising susceptibility	OMIM:613554
Meningococcal Meningitis	Hypotension, Petechiae, Projectile vomiting, Purpura, Shock, Anorexia	ORPHA:33475
Severe Neurodegenerative Syndrome With Lipodystrophy	Gait ataxia, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Reduced intraabdominal ad...	ORPHA:363400
Crimean-Congo Hemorrhagic Fever	Hypotension, Diarrhea, Hemoperitoneum, Pericardial effusion, Tachycardia, Abnormal left ventricul...	ORPHA:99827
Tufted Angioma	Purpura, Petechiae	ORPHA:1063
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Acute Myelomonocytic Leukemia	Abnormal bleeding, Pallor	ORPHA:517
Eosinophilic Gastroenteritis	Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Ste...	ORPHA:2070
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Aicardi-Goutieres Syndrome 1	Petechiae, Feeding difficulties in infancy, Vasculitis, Multiple gastric polyps, Acrocyanosis, Pu...	OMIM:225750
Congenital Enterocyte Heparan Sulfate Deficiency	Diarrhea, Abdominal distention, Edema, Dehydration, Protein-losing enteropathy, Hematochezia	ORPHA:103910
Non-Functioning Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:94080
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:610297
Enterocolitis	Enterocolitis, Hematochezia, Ulcerative colitis, Abdominal distention	OMIM:226150
Wyburn-Mason Syndrome	Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma...	ORPHA:53719
Pituitary Adenoma 4, Acth-Secreting	Facial erythema, Striae distensae, Purpura, Hypertension, Bruising susceptibility, Ecchymosis, Ed...	OMIM:219090
Polymyositis	Gastroesophageal reflux, Abnormal atrioventricular conduction, Abnormal mitral valve morphology, ...	ORPHA:732
Hyperphenylalaninemia, Bh4-Deficient, B	Limb hypertonia, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Tremor, Progressive neurologic...	OMIM:233910
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Polyhydramnios, Bloody diarrhea, Enterocolitis, Ventricular septal defect, Jejunal atresia, Death...	OMIM:243150
Autoimmune Hemolytic Anemia, Cold Type	Pallor	ORPHA:228312
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Gait ataxia, Postural tremor, Myoclonus, Action tremor, Mental deterioration, Thrombocytopenia, I...	OMIM:254900
Immunodeficiency 27A	Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegal...	OMIM:209950
Optic Atrophy 1	Pallor	OMIM:165500
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Dermatitis, Atopic	Facial erythema, Dry skin, Pallor	OMIM:603165
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Spasticity, Ankle clonus, Generalized dystonia, Parkinsonism, Limb dystonia, A...	OMIM:617013
Methanol Poisoning	Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio...	ORPHA:31825
Dural Sinus Malformation	Cerebellar hemorrhage, Vascular dilatation, Cerebral hemorrhage, Carotid cavernous fistula, Intra...	ORPHA:97339
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Gait ataxia, Diminished motivation, Aggressive behavior, Cognitive impairment, Gait apraxia, Dysd...	OMIM:615157
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility	ORPHA:721
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Bruising susceptibility, Epistaxis, Petechiae, Persistent bleeding after trauma	OMIM:300367
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Aggressive behavior, Self-mutilation, Emotional lability	OMIM:616269
Hemophilia B	Persistent bleeding after trauma, Abnormal bleeding, Gastrointestinal hemorrhage, Joint hemorrhage	OMIM:306900
Encephalopathy, Ethylmalonic	Petechiae, Death in infancy, Acrocyanosis, Chronic diarrhea, Feeding difficulties	OMIM:602473
Parkinson Disease 14, Autosomal Recessive	Frontotemporal dementia, Aggressive behavior, Spasticity, Ankle clonus, Resting tremor, Parkinson...	OMIM:612953
Drug-Induced Lupus Erythematosus	Pericardial effusion, Prolonged QTc interval, Pericarditis, Petechiae	ORPHA:231111
Aceruloplasminemia	Blepharospasm, Decreased circulating ceruloplasmin concentration, Decreased serum iron, Gait atax...	ORPHA:48818
Primary Angiitis Of The Central Nervous System	Transient ischemic attack, Stroke, Cerebral vasculitis, Intracranial hemorrhage	ORPHA:140989
Infantile Neuronal Ceroid Lipofuscinosis	Poor fine motor coordination, Chorea, Spasticity, Cognitive impairment, Motor deterioration, Clum...	ORPHA:79263
Sneddon Syndrome	Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Impaired oxidative burst, T...	OMIM:226990
Stormorken-Sjaastad-Langslet Syndrome	Purpura	ORPHA:3204
Spinocerebellar Ataxia 50	Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor, Memory impairment	OMIM:620158
Shigellosis	Intestinal perforation, Bloody diarrhea, Vomiting, Hepatic failure, Paralytic ileus, Abdominal pa...	ORPHA:810
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Intracranial hemorrhage, Chronic otitis media, Bruising susceptibility	ORPHA:3226
Retinitis Pigmentosa 27	Pallor	OMIM:613750
Breath-Holding Spells	Pallor	OMIM:607578
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to...	OMIM:606324
Hyperinsulinism Due To Ucp2 Deficiency	Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia	ORPHA:276556
Typhoid	Diarrhea, Cardiac arrest, Abdominal pain, Epistaxis, Constipation, Gastrointestinal hemorrhage, A...	ORPHA:99745
Al Amyloidosis	Dysphagia, Reduced left ventricular ejection fraction, Abnormal EKG, Abnormality of the gastroint...	ORPHA:85443
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Dysdiadochokinesis, Sideroblastic anemia, Babinski sign, Hypochromic microcytic anemia, Intention...	OMIM:301310
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume	OMIM:252270
Congenital Sialidosis Type 2	Telangiectasia, Petechiae, Abnormal EKG, Edema, Abnormal heart morphology, Ascites, Umbilical hernia	ORPHA:93400
Malignant Atrophic Papulosis	Abnormal pericardium morphology, Intestinal perforation, Intestinal fistula, Ischemic stroke, Nau...	ORPHA:679
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia	OMIM:600116
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Moyamoya phenomenon, Ischemic stroke, Cerebral hemorrhage, Hypertension, Dilated cardiomyopathy, ...	ORPHA:280679
Pseudo-Torch Syndrome 2	Patent ductus arteriosus, Cerebral hemorrhage, Petechiae, Secundum atrial septal defect, Pleural ...	OMIM:617397
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Chorea, Resting tremor, Limb hypertonia, Involuntary movements, Myoclonus, Choreoathetosis, Parox...	OMIM:606703
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Failure to thrive, Hypotriglyceridemia, Hypocholesterole...	OMIM:246700
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Abnormal bleeding, Impaired platelet aggregation, Bruising susc...	OMIM:614072
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid factor positive, Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Gerstmann-Straussler Disease	Gait ataxia, Spasticity, Aggressive behavior, Weight loss, Parkinsonism, Truncal ataxia, Rigidity...	OMIM:137440
Stuve-Wiedemann Syndrome 2	Pulmonary arterial hypertension, Congestive heart failure, Stillbirth, Death in adolescence, Dysp...	OMIM:619751
Beta-Propeller Protein-Associated Neurodegeneration	Aggressive behavior, Parkinsonism, Rigidity, Dementia, Spastic paraparesis, Tremor, Dystonia, Bra...	ORPHA:329284
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Myoclonus, Dementia, Elevated circulating creatine kinase concentration, Tremor, Frequent falls, ...	OMIM:159950
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Leishmaniasis	Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, ...	ORPHA:507
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia	ORPHA:276575
Desmoid Tumor	Malabsorption, Abdominal pain, Intestinal polyposis, Intestinal obstruction, Gastrointestinal hem...	ORPHA:873
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Arthritis, Pericarditis, Systemic lupus erythematosus, Antinuclear antibody positivity	OMIM:609939
Inherited Creutzfeldt-Jakob Disease	Gait ataxia, Chorea, Bradykinesia, Abnormal pyramidal sign, Spastic dysarthria, Clumsiness, Myocl...	ORPHA:282166
Familial Hemophagocytic Lymphohistiocytosis	Petechiae, Jaundice, Purpura, Bruising susceptibility, Ecchymosis, Colitis, Decreased liver function	ORPHA:540
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia	ORPHA:276580
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Burkitt Lymphoma	Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Nausea and vomiting	ORPHA:543
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth...	ORPHA:98870
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Hereditary Hemorrhagic Telangiectasia	Pulmonary arterial hypertension, Pulmonary embolism, Hepatic failure, Mucosal telangiectasiae, Ce...	ORPHA:774
Parkinsonism-Dystonia 1, Infantile-Onset	Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor...	OMIM:613135
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Pseudoxanthoma Elasticum	Retinal hemorrhage, Restrictive cardiomyopathy, Cutis laxa, Mitral stenosis, Mitral valve prolaps...	OMIM:264800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Pallor	OMIM:613561
Spinocerebellar Ataxia 18	Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor	OMIM:607458
Pseudoxanthoma Elasticum	Lack of skin elasticity, Retinal hemorrhage, Sudden cardiac death, Striae distensae, Restrictive ...	ORPHA:758
Menkes Disease	Death in childhood, Intracranial hemorrhage, Cutis laxa	OMIM:309400
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol...	ORPHA:86839
Perry Syndrome	Weight loss, Parkinsonism, Abnormality of extrapyramidal motor function, Apathy, Dementia, Tremor	ORPHA:178509
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Mpi-Cdg	Vomiting, Diarrhea, Edema, Gastrointestinal hemorrhage, Protein-losing enteropathy, Decreased liv...	ORPHA:79319
Spinocerebellar Ataxia Type 37	Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria	ORPHA:363710
Juvenile Dermatomyositis	Cutaneous photosensitivity, Dysphagia, Mucosal telangiectasiae, Bundle branch block, Vasculitis, ...	ORPHA:93672
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Increased mean corpuscular volume, ...	OMIM:618849
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor	ORPHA:276608
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Moyamoya phenomenon, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Dilated cardiomy...	OMIM:300845
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ...	ORPHA:91387
Quebec Platelet Disorder	Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi...	OMIM:601709
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Flexion contracture, Eyelid myoclonus, Clumsiness, Myoclonus, Hepatosplenomegaly,...	ORPHA:2590
Polycythemia Vera	Pulmonary embolism, Abdominal pain, Intermittent claudication, Angina pectoris, Bruising suscepti...	ORPHA:729
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Aggressive behavior, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Anxiety, Hy...	OMIM:619738
Neuroferritinopathy	Chorea, Blepharospasm, Cognitive impairment, Resting tremor, Frontal lobe dementia, Writer's cram...	ORPHA:157846
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal hemorrhage, Telangiectasia, Macular edema, Punctate vasculitis skin lesions, Raynaud phen...	OMIM:192315
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear/anxiety-related behavior, Aggressive behavior, Abnormal aggressive, impulsive or vi...	ORPHA:3077
Aggressive Systemic Mastocytosis	Hypotension, Diarrhea, Malabsorption, Abdominal pain, Abdominal cramps, Flushing, Anorexia, Gastr...	ORPHA:98850
Primary Dystonia, Dyt2 Type	Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener...	ORPHA:99657
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Citrullinemia Type Ii	Aggressive behavior, Irritability, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholester...	ORPHA:247585
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, Patent foramen ovale, Petechiae, Jaundice, Decreased liver function, Um...	OMIM:251290
Peutz-Jeghers Syndrome	Stomach cancer, Vomiting, Abnormality of the gastrointestinal tract, Esophageal neoplasm, Abdomin...	ORPHA:2869
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cognitive impairment, Limb hypertonia, Cerebral palsy, Small for gestational age, Rigidity, Oculo...	ORPHA:70594
Hypermanganesemia With Dystonia 1	Poor fine motor coordination, Hypermanganesemia, Increased total iron binding capacity, Parkinson...	OMIM:613280
Telangiectasia, Hereditary Hemorrhagic, Type 4	Venous varicosities of celiac and mesenteric vessels, Palate telangiectasia, Dilatation of mesent...	OMIM:610655
Acquired Aneurysmal Subarachnoid Hemorrhage	Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syn...	ORPHA:90065
Essential Thrombocythemia	Prolonged bleeding time	ORPHA:3318
Extracranial Carotid Artery Aneurysm	Cerebral ischemia, Atherosclerosis, Vasculitis, Arterial fibromuscular dysplasia, Hypertension, T...	ORPHA:494424
Dopa-Responsive Dystonia	Generalized dystonia, Anxiety, Parkinsonism, Rigidity, Poor coordination, Oculogyric crisis, Abno...	ORPHA:255
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus	OMIM:600363
Hyperinsulinism Due To Hnf1A Deficiency	Syncope, Palpitations, Tachycardia, Pallor	ORPHA:324575
Juvenile Polyposis Of Infancy	Patent ductus arteriosus, Rectal prolapse, Diarrhea, Intussusception, Abdominal pain, Abnormal bl...	ORPHA:79076
Budd-Chiari Syndrome	Malabsorption, Jaundice, Abdominal pain, Peritonitis, Gastrointestinal infarctions, Intestinal ob...	ORPHA:131
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Neonatal death, Coarctation of aorta	OMIM:601612
Nk-Cell Enteropathy	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Diarrhea, Duode...	ORPHA:263665
Cinca Syndrome	Edema, Nausea and vomiting, Purpura, Urticaria	ORPHA:1451
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Duodenal polyposis, Multiple gastric polyps, Abnormal bleeding, Edema, Small intestinal polyposis...	ORPHA:329971
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia	OMIM:618805
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Acys Amyloidosis	Stroke, Death in early adulthood, Cerebral hemorrhage	ORPHA:100008
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulating ...	OMIM:614307
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula...	OMIM:607671
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor	OMIM:618387
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Aicardi-Goutieres Syndrome 9	Anemia, Spasticity, Hemolytic anemia, Weight loss, Spastic diplegia, Spastic tetraplegia, Hepatos...	OMIM:619487
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Pallor	ORPHA:90037
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Abnormal bleeding, Petechiae	OMIM:612840
Adams-Oliver Syndrome	Pulmonary arterial hypertension, Encephalocele, Cutis marmorata, Abnormal pulmonary valve morphol...	ORPHA:974
Cholestasis-Lymphedema Syndrome	Nausea and vomiting, Lymphedema, Jaundice, Abdominal pain, Gastrointestinal hemorrhage, Portal hy...	ORPHA:1414
Erythrocytosis, Familial, 2	Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Stroke, Varicose veins	OMIM:263400
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ...	OMIM:308240
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage, Budd-Chiari syndrome	OMIM:263300
Familial Pseudohyperkalemia	Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu...	ORPHA:90044
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Tremor, Resting tremor	OMIM:616710
Hemophilia A	Muscle hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage	OMIM:306700
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Epistaxis, Abnormal bleeding, Prolonged prothrombin time	OMIM:610842
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Purpura, Petechiae	OMIM:605432
Xeroderma Pigmentosum, Complementation Group G	Small for gestational age, Spasticity, Tremor, Ataxia	OMIM:278780
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Q Fever	Endocarditis, Pericardial effusion, Purpura, Pleural effusion, Pericarditis, Abnormal left ventri...	ORPHA:781
Hepatoportal Sclerosis	Jaundice, Abnormal bleeding, Hepatocellular carcinoma, Prolonged prothrombin time, Gastrointestin...	ORPHA:64743
Hb Bart'S Hydrops Fetalis	Pericarditis, Congestive heart failure, Pallor	ORPHA:163596
Abeta Amyloidosis, Dutch Type	Stroke, Death in early adulthood, Cerebral hemorrhage	ORPHA:100006
Alg6-Cdg	Failure to thrive, Decreased LDL cholesterol concentration, Ataxia, Hypoalbuminemia	ORPHA:79320
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Joint hypermobility, Abnormality of ...	ORPHA:85410
Parkinson-Dementia Syndrome	Abnormal pyramidal sign, Parkinsonism, Rigidity, Dementia, Tremor	OMIM:260540
Hemoglobin D Disease	Pallor	ORPHA:90039
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Livedoid Vasculopathy	Macular purpura, Pedal edema, Ischemic stroke, Skin ulcer, Cutis marmorata, Hypertension, Ecchymo...	ORPHA:542643
Systemic Lupus Erythematosus	Malar rash, Antiphospholipid antibody positivity, Arthritis, Nephritis, Pericarditis, Systemic lu...	OMIM:152700
Tempi Syndrome	Facial erythema, Telangiectasia, Intracranial hemorrhage	ORPHA:284227
Secondary Non-Traumatic Avascular Necrosis	Systemic lupus erythematosus, Autoimmunity, Limitation of joint mobility, Rheumatoid arthritis	ORPHA:399180
Bile Acid Synthesis Defect, Congenital, 4	Hepatic failure, Fat malabsorption, Prolonged prothrombin time, Prolonged neonatal jaundice, Hema...	OMIM:214950
Neurodegeneration With Brain Iron Accumulation 7	Increased circulating very long-chain fatty acid concentration, Ataxia, Dysmetria, Tremor, Lower ...	OMIM:617916
Kufor-Rakeb Syndrome	Spasticity, Aggressive behavior, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism w...	OMIM:606693
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Anorexia, Xerostom...	OMIM:175500
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Arterial rupture, Bruising susceptibility	ORPHA:300179
Erythrocytosis, Familial, 1	Myocardial infarction, Hypertension, Cerebral hemorrhage	OMIM:133100
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Ethylmalonic Encephalopathy	Acrocyanosis, Diarrhea, Petechiae	ORPHA:51188
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Abnormal pyramidal sign, Cognitive impairment, Emotional lability, Ataxia, Tremor, Me...	ORPHA:542310
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Subcutaneous hemo...	OMIM:603585
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Congenital Analbuminemia	Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem...	ORPHA:86816
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pericardial effusion, Abnormal bleeding, Bruising susceptibility, Ecchymosis...	ORPHA:464329
Myelofibrosis	Purpura, Pallor	OMIM:254450
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Death in infancy, Pericardial effusion, Pleural effusion, Feeding difficulties, S...	OMIM:618183
Wilson Disease	Limb dystonia, Decreased circulating ceruloplasmin concentration, Thrombocytopenia, Chondrocalcin...	OMIM:277900
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia...	OMIM:300946
Dentatorubral Pallidoluysian Atrophy	Gait ataxia, Blepharospasm, Cognitive impairment, Dysdiadochokinesis, Truncal ataxia, Myoclonus, ...	ORPHA:101
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Eyelid myoclonus, Pancytopenia, Ataxia, Increased mean corpuscular volume, ...	OMIM:613839
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Wrist flexion contracture, Flexion contracture, Spastic tetraplegia, Spastic gait, Resting tremor...	OMIM:300055
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Parkinsonism, Rigidity, Oculom...	ORPHA:99750
Scorpion Envenomation	Vomiting, Diarrhea, Pulmonary edema, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundl...	ORPHA:466677
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ...	ORPHA:158061
Hypophosphatasia, Infantile	Intracranial hemorrhage, Stillbirth, Death in infancy	OMIM:241500
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Gait ataxia, Spasticity, Cognitive impairment, Oculomotor apraxia, Poor motor coordination, Ataxi...	ORPHA:1170
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Boutonneuse Fever	Diarrhea, Petechiae, Abdominal pain, Nausea, Vasculitis	ORPHA:83313
Spinocerebellar Ataxia 23	Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor	OMIM:610245
Granulomatosis With Polyangiitis	Cerebral ischemia, Nausea and vomiting, Abdominal pain, Skin ulcer, Purpura, Angina pectoris, Hyp...	ORPHA:900
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Petechiae	OMIM:619374
Classic Phenylketonuria	Self-injurious behavior, Motor deterioration, Hyperphenylalaninemia, Hemiplegia, Paraplegia, Trem...	ORPHA:79254
Cutis Marmorata Telangiectatica Congenita	Patent ductus arteriosus, Subcutaneous hemorrhage, Purpura, Cutis marmorata, Telangiectasia of th...	ORPHA:1556
Sea-Blue Histiocytosis	Edema, Abnormal bleeding, Petechiae	ORPHA:158029
Methylcobalamin Deficiency Type Cble	Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Failure to thrive, Macrocytic anemia, Incre...	ORPHA:2169
Autosomal Spastic Paraplegia Type 58	Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu...	ORPHA:397946
Bone Marrow Failure And Diabetes Mellitus Syndrome	T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume	OMIM:620044
Autoimmune Hemolytic Anemia	Arrhythmia, Congestive heart failure, Pallor	ORPHA:98375
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:403
Wiskott-Aldrich Syndrome	Diarrhea, Petechiae, Small vessel vasculitis, Large vessel vasculitis, Purpura, Ulcerative coliti...	OMIM:301000
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Autosomal Dominant Cerebellar Ataxia	Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit...	ORPHA:99
Mastocytosis	Hypotension, Diarrhea, Nausea and vomiting, Arrhythmia, Anorexia, Gastrointestinal hemorrhage, Te...	ORPHA:98292
Lymphatic Malformation 8	Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge...	OMIM:618773
Hemorrhagic Fever-Renal Syndrome	Hypotension, Vomiting, Diarrhea, Petechiae, Pulmonary edema, Abdominal pain, Intracranial hemorrh...	ORPHA:340
Pheochromocytoma--Islet Cell Tumor Syndrome	Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten...	OMIM:171420
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Vasculitis, Petechiae, Urticaria	OMIM:603909
Familial Hyperaldosteronism Type Ii	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:404
Telangiectasia, Hereditary Hemorrhagic, Type 1	Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ...	OMIM:187300
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or...	ORPHA:420485
Neurocutaneous Melanocytosis	Meningocele, Intracranial hemorrhage, Death in infancy	ORPHA:2481
Hydrops Fetalis	Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the gastrointestinal tract, Noni...	ORPHA:1041
Neuroendocrine Tumor Of Stomach	Hypotension, Bloody diarrhea, Facial telangiectasia, Cardiogenic shock, Palpitations, Hematemesis...	ORPHA:100075
Neurodegeneration With Brain Iron Accumulation 5	Aggressive behavior, Anxiety, Parkinsonism, Rigidity, Dementia, Spastic paraparesis, Tremor, Ment...	OMIM:300894
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage	ORPHA:398189
Parkes Weber Syndrome	Vascular dilatation, Bounding pulse, Arteriovenous malformation, Cerebral arteriovenous malformat...	ORPHA:90307
22Q11.2 Deletion Syndrome	Meningocele, Polyhydramnios, Truncus arteriosus, Feeding difficulties in infancy, Bowel incontine...	ORPHA:567
Periodic Fever, Familial, Autosomal Dominant	Vomiting, Abdominal pain, Chronic constipation, Periorbital edema, Gastrointestinal hemorrhage, C...	OMIM:142680
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Camptodactyly, Failure to thrive, Elevated circulating creatinine concentration, Thromboc...	OMIM:608104
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Spastic ataxia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethionine...	OMIM:277410
Pseudoxanthoma Elasticum, Forme Fruste	Retinal hemorrhage, Cerebral hemorrhage, Premature occlusive vascular stenosis, Angina pectoris, ...	OMIM:177850
Griscelli Syndrome Type 2	Jaundice, Premature graying of hair, Petechiae, Nausea and vomiting	ORPHA:79477
Parkinson Disease 17	Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia	OMIM:614203
Ebola Hemorrhagic Fever	Vomiting, Diarrhea, Poor appetite, Abdominal pain, Abnormal bleeding, Nausea, Gastrointestinal he...	ORPHA:319218
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Chorea, Anxiety, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Cogwheel rigidity, Panic attack...	OMIM:619725
Spinocerebellar Ataxia, Autosomal Recessive 30	Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Increa...	OMIM:619405
Pelizaeus-Merzbacher Disease	Abnormal pyramidal sign, Cognitive impairment, Writer's cramp, Apathy, Choreoathetosis, Psychomot...	OMIM:312080
Vertical Talus, Congenital	Arthritis	OMIM:192950
Idiopathic Aplastic Anemia	Epistaxis, Retinal hemorrhage, Gingival bleeding, Ecchymosis	ORPHA:88
Congenital Pulmonary Lymphangiectasia	Cyanosis, Pulmonary arterial hypertension, Gastroesophageal reflux, Hydrops fetalis, Chylopericar...	ORPHA:2414
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly	OMIM:619013
Mirage Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Esophageal stricture, Achalasia, Petechiae, In...	OMIM:617053
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Neonatal hyperbilirubinemia, Hypertonia, Hypernatremia, Hypoalb...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Neonatal hyperbilirubinemia, Hypertonia, Hypernatremia, Hypoalb...	ORPHA:529799
Spinocerebellar Ataxia 42	Abnormal pyramidal sign, Cognitive impairment, Spastic ataxia, Spastic gait, Ataxia, Babinski sig...	OMIM:616795
Cardiomyopathy, Familial Hypertrophic, 4	Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a...	OMIM:115197
Familial Hyperaldosteronism Type Iii	Epistaxis, Prolonged QT interval, Intracranial hemorrhage, Hypertension	ORPHA:251274
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ...	ORPHA:247598
Spinocerebellar Ataxia Type 27	Gait ataxia, Aggressive behavior, Truncal ataxia, Limb ataxia, Hand tremor, Tremor, Memory impair...	ORPHA:98764
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Hypoalbuminemia	OMIM:614441
Lynch Syndrome	Death in infancy, Nausea and vomiting, Malabsorption, Abdominal pain, Neoplasm of the rectum, Hep...	ORPHA:144
Bile Acid Synthesis Defect, Congenital, 3	Hepatic failure, Diarrhea, Jaundice, Steatorrhea, Prolonged prothrombin time, Hematochezia	OMIM:613812
Lethal Congenital Contracture Syndrome 5	Retinal hemorrhage, Subdural hemorrhage, Death in infancy	OMIM:615368
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity	OMIM:619028
Congenital Enterovirus Infection	Leukopenia, Anemia, Abnormal macrophage morphology, Irritability, Hyperammonemia, Leukocytosis, T...	ORPHA:292
Gastrointestinal Stromal Tumor	Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Nausea and vomiting, Esophageal ...	ORPHA:44890
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Abdominal pain, Skin ulcer, Purpura, Cutis marmorata, Raynaud phenomenon, Hypertension, Dilated c...	OMIM:615688
Monosomy 13Q34	Epistaxis, Prolonged prothrombin time, Common atrium, Hematochezia, Pulmonic stenosis	ORPHA:96168
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Immunodeficiency 43	Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta...	OMIM:241600
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cyanosis, Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad tel...	OMIM:600376
Nephrosialidosis	Pericardial effusion, Ascites, Death in childhood	OMIM:256150
Classical Ehlers-Danlos Syndrome	Chronic constipation, Fragile skin, Arterial rupture, Prolonged bleeding time, Prematurely aged a...	ORPHA:287
Neuroendocrine Tumor Of The Colon	Hypotension, Bloody diarrhea, Facial telangiectasia, Abdominal pain, Hypoactive bowel sounds, Pro...	ORPHA:100080
Leukodystrophy, Hypomyelinating, 11	Spasticity, Myoclonus, Ataxia, Failure to thrive, Tremor	OMIM:616494
Beta-Thalassemia	Hypertrophic cardiomyopathy, Skin ulcer, Pallor	ORPHA:848
American Trypanosomiasis	Congestive heart failure, Pallor, Arrhythmia, Myocarditis, Cardiomyopathy	ORPHA:3386
Rheumatic Fever	Pallor, Pericarditis, Epistaxis, Erythema, Arrhythmia, Myocarditis	ORPHA:3099
Marburg Hemorrhagic Fever	Hypotension, Bloody diarrhea, Diarrhea, Pericarditis, Shock, Capillary leak, Dehydration, Hypovol...	ORPHA:99826
Whipple Disease	Hypotension, Pedal edema, Diarrhea, Malabsorption, Abdominal pain, Pericarditis, Myocardial infar...	ORPHA:3452
Spinocerebellar Ataxia Type 21	Gait ataxia, Cognitive impairment, Rigidity, Abnormality of extrapyramidal motor function, Tremor...	ORPHA:98773
Nephrotic Syndrome, Type 14	Ataxia, Lymphopenia, Mental deterioration, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Bacterial Toxic-Shock Syndrome	Hypotension, Vomiting, Diarrhea, Abdominal pain, Ecchymosis, Shock, Scaling skin, Edema, Nausea, ...	ORPHA:36234
Prolidase Deficiency	Petechiae, Prolonged neonatal jaundice, Skin ulcer, Diffuse telangiectasia	OMIM:170100
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Mitral valve prolapse, Mitral regurgitation, Bruising susceptibility	OMIM:225320
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:276621
Developmental Delay And Seizures With Or Without Movement Abnormalities	Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia	OMIM:617836
Parkinsonism-Dystonia 2, Infantile-Onset	Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Tremor, Dystonia	OMIM:618049
Macs Syndrome	Prolonged bleeding time, Bruising susceptibility, Recurrent aphthous stomatitis, Bronchiectasis	OMIM:613075
X-Linked Dystonia-Parkinsonism	Chorea, Blepharospasm, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism with favorable resp...	ORPHA:53351
Galloway-Mowat Syndrome 6	Decreased body weight, Hypoalbuminemia	OMIM:618347
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations	ORPHA:231625
Osteogenesis Imperfecta, Type Xvi	Prolonged bleeding time, Bruising susceptibility	OMIM:616229
Rare Circulatory System Disease	Arterial calcification, Intermittent claudication, Pallor, Abnormal systemic arterial morphology,...	ORPHA:98028
Radiation Proctitis	Abnormal gastrointestinal vascular morphology, Diarrhea, Abnormal rectum morphology, Rectal absce...	ORPHA:70475
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Cognitive impairment, Myoclonus, Ataxia, Dementia, Tremor	OMIM:607876
Brain Dopamine-Serotonin Vesicular Transport Disease	Cognitive impairment, Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Ataxia,...	ORPHA:352649
Autoimmune Hepatitis	Spider hemangioma, Fulminant hepatitis, Jaundice, Abdominal pain, Hepatocellular carcinoma, Ulcer...	ORPHA:2137
Idiopathic Pulmonary Hemosiderosis	Heart murmur, Diffuse alveolar hemorrhage, Pallor	ORPHA:99931
Rheumatoid Arthritis	Rheumatoid arthritis, Rheumatoid factor positive, Anti-citrullinated protein antibody positivity,...	OMIM:180300
Myopathy With Extrapyramidal Signs	Chorea, Hyperlysinemia, Clumsiness, Abnormality of extrapyramidal motor function, Choreoathetosis...	OMIM:615673
Ataxia With Vitamin E Deficiency	Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Dysmetria, Tremor, H...	ORPHA:96
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Pulmonary arterial hypertension, Hypertension, Intracranial hemorrhage, Epistaxis, Second degree ...	ORPHA:369929
Hereditary Mixed Polyposis Syndrome	Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Adenoca...	ORPHA:157794
Dyskeratosis Congenita, Autosomal Recessive 8	Esophageal stricture, Petechiae, Pancolitis, Inflammation of the large intestine, Intrauterine gr...	OMIM:620133
Isovaleric Acidemia	Cerebellar hemorrhage	OMIM:243500
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Telangiectasia, Macular edema, Punctate vasculitis skin lesions, Raynaud phenomenon, Hypertension...	ORPHA:247691
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ...	OMIM:614298
Congenital Disorder Of Glycosylation, Type Ia	Flexion contracture, Abnormal subcutaneous fat tissue distribution, Ataxia, Failure to thrive, Dy...	OMIM:212065
Alpha-2-Plasmin Inhibitor Deficiency	Joint hemorrhage, Hemothorax, Bruising susceptibility, Persistent bleeding after trauma	OMIM:262850
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Death in infancy	OMIM:618886
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure, Pallor	ORPHA:90033
Primary Intestinal Lymphangiectasia	Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Lymphopenia, Hypoprotein...	ORPHA:90362
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Prolonged prothrombin time, Death in adolescence, Intraventricular hemorrhage, ...	OMIM:619055
Subcorneal Pustular Dermatosis	Pustule, Systemic lupus erythematosus, Autoimmunity, Rheumatoid arthritis	ORPHA:48377
Aicardi-Goutieres Syndrome 7	Bloody diarrhea, Atrophic gastritis, Diarrhea, Pericardial effusion, Vasculitis, Hypertension, Ol...	OMIM:615846
Behr Syndrome	Adductor longus contractures, Progressive spasticity, Truncal ataxia, Achilles tendon contracture...	OMIM:210000
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Dermal translucency, Atrial septal defect, Bruising susceptibility, Arterial rupture, Poor wound ...	OMIM:619115
Zygomycosis	Diarrhea, Pericarditis, Pleural effusion, Gastritis, Colitis, Hematemesis, Unusual gastrointestin...	ORPHA:73263
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the rectum, Abdominal pain, Skin ulcer, Neoplasm of the liver, Intestinal bleeding, A...	ORPHA:424019
Abetalipoproteinemia	Gait ataxia, Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Upper motor neu...	ORPHA:14
Perry Syndrome	Frontotemporal dementia, Weight loss, Suicidal ideation, Parkinsonism, Rigidity, Apathy, Tremor, ...	OMIM:168605
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor	ORPHA:90036
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr...	ORPHA:300751
Ddost-Cdg	Lipodystrophy, Failure to thrive, Tremor, Osteopenia, Oromotor apraxia	ORPHA:300536
Kasabach-Merritt Syndrome	Petechiae, Abdominal pain, Purpura, Abdominal distention, Prolonged prothrombin time, Hepatic hem...	ORPHA:2330
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Congestive heart failure, Pallor	ORPHA:75564
Cardiomyopathy, Dilated, 1A	Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh...	OMIM:115200
Carney-Stratakis Syndrome	Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Dysphagia, Gastrointestinal ...	ORPHA:97286
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Parkinsonism, Oculogyric crisis, Abnormal circulating neopterin concentration, Hy...	ORPHA:1578
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Poor fine motor coordination, Flexion contracture, Spastic ataxia, Progressive spasticity, Trunca...	ORPHA:137898
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Purpura, Hypertension, Diarrhea	OMIM:235400
Attenuated Chédiak-Higashi Syndrome	Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility	ORPHA:352723
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Periodontitis, Impaired ADP-induced platelet aggregation, Recurrent oti...	OMIM:608233
Primary Effusion Lymphoma	Pericardial effusion, Abdominal pain, Pleural effusion, Abdominal distention	ORPHA:48686
Zika Virus Disease	Vomiting, Subcutaneous hemorrhage, Miscarriage, Edema, Intrauterine growth retardation	ORPHA:448237
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Tremor, Elevated circulating creatine kinase concentration	OMIM:313200
Osteopetrosis, Autosomal Recessive 4	Petechiae	OMIM:611490
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Feeding dif...	OMIM:614702
Cln5 Disease	Spasticity, Aggressive behavior, Anxiety, Dysdiadochokinesis, Truncal ataxia, Clumsiness, Ataxia,...	ORPHA:228360
Late-Infantile/Juvenile Krabbe Disease	Tetraplegia, Spastic diplegia, Clumsiness, Upper motor neuron dysfunction, Emotional lability, He...	ORPHA:206443
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Arterial rupture, Poor wound healing, Bruising susceptibility, Dermal translucency	OMIM:619120
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Oligoarthritis, Flexion contracture, Synovial hypertrophy, Hip osteoarthritis, Enthesitis, Arthri...	ORPHA:85408
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia	OMIM:226300
20Q13.33 Microdeletion Syndrome	Oligohydramnios, Hematochezia, Atrial septal defect, Abnormal cardiac ventricle morphology	ORPHA:261311
Thrombocytopenia 1	Bruising susceptibility, Epistaxis, Petechiae, Joint hemorrhage	OMIM:313900
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo...	OMIM:618877
Spondyloarthropathy, Susceptibility To, 1	Sacroiliac arthritis, Oligoarthritis, Hip osteoarthritis, Enthesitis, Inflammation of the large i...	OMIM:106300
Cushing Disease	Pedal edema, Striae distensae, Capillary fragility, Skin ulcer, Purpura, Hypertension, Bruising s...	ORPHA:96253
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Diarrhea, Intussusception, Duodenal adenocarcinoma, Abdominal pain, Mult...	OMIM:174900
Nephrotic Syndrome, Type 1	Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Postinfectious Vasculitis	Bacterial endocarditis, Ischemic stroke, Abdominal pain, Palpable purpura, Acrocyanosis, Cutis ma...	ORPHA:48435
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Brucellosis	Endocarditis, Vomiting, Abnormality of the gastrointestinal tract, Transient ischemic attack, Abd...	ORPHA:1304
Ehlers-Danlos Syndrome, Periodontal Type, 1	Intestinal perforation, Palmoplantar cutis laxa, Bruising susceptibility, Prominent superficial v...	OMIM:130080
Relapsing Polychondritis	Myocarditis, Recurrent aphthous stomatitis, Large vessel vasculitis, Abnormal aortic valve morpho...	ORPHA:728
Carney Triad	Diarrhea, Nausea and vomiting, Abdominal pain, Hypertension, Anorexia, Gastrointestinal hemorrhag...	ORPHA:139411
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Rigidity, Dementia, Tremor, Progressive neurologic deterioration, Hypertonia	OMIM:176500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Hyperbilirubinemia, Ataxia, Reticulocytosis, Decreased hemoglobin concentration...	ORPHA:713
Toxic Epidermal Necrolysis	Sudden cardiac death, Intestinal perforation, Nausea and vomiting, Malabsorption, Abdominal pain,...	ORPHA:537
Acute Liver Failure	Hypotension, Cerebral edema, Vomiting, Diarrhea, Hepatocellular necrosis, Hepatic necrosis, Jaund...	ORPHA:90062
Cystathioninuria	Tremor, Cystathioninemia	ORPHA:212
Stevens-Johnson Syndrome	Sudden cardiac death, Esophageal stricture, Diarrhea, Nausea and vomiting, Abdominal pain, Myocar...	ORPHA:36426
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Social and occupational deterioration, Abnormal pyramidal sign, Parkinsonism, Park...	ORPHA:240071
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Poor wound healing, Bruising susceptibility	OMIM:130060
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Gastric adenocarcinoma, Abdominal pain, Fundic gland polyposis, Melena	OMIM:619182
Hermansky-Pudlak Syndrome 11	Bruising susceptibility, Epistaxis, Gingival bleeding, Menorrhagia, Impaired collagen-induced pla...	OMIM:619172
Systemic-Onset Juvenile Idiopathic Arthritis	Juvenile rheumatoid arthritis, Skin rash, Autoimmunity, Pericarditis, Joint swelling, Anterior uv...	ORPHA:85414
Wolcott-Rallison Syndrome	Decreased body weight, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron defi...	ORPHA:1667
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time, Esophagitis	ORPHA:1901
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Flexion contracture, Decreased body weight, Decreased plasma carnitine, Decreased serum i...	ORPHA:89842
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic root aneurysm, Aortic atherosclerotic lesion, Premature skin wrinkling, Hypertension, Intr...	ORPHA:363618
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Abdominal pain, Dilated cardiomyopathy, Congestive heart failure, Inflammation of the large intes...	OMIM:615895
Vipoma	Intermittent jaundice, Episodic abdominal pain, Poor appetite, Nausea and vomiting, Malabsorption...	ORPHA:97282
Joubert Syndrome 14	Meningocele, Hypertension, Encephalocele, Intracranial hemorrhage	OMIM:614424
Ehlers-Danlos Syndrome, Classic Type, 1	Mitral valve prolapse, Bruising susceptibility, Fragile skin, Bowel diverticulosis, Poor wound he...	OMIM:130000
Pyruvate Dehydrogenase Deficiency	Multiple lipomas, Spasticity, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx o...	ORPHA:765
Mohr-Tranebjaerg Syndrome	Ankle clonus, Abnormal pyramidal sign, Apraxia, Dementia, Babinski sign, Focal dystonia, Tremor, ...	ORPHA:52368
Ppoma	Intermittent jaundice, Episodic abdominal pain, Diarrhea, Poor appetite, Nausea and vomiting, Hyp...	ORPHA:97278
Familial Colorectal Cancer Type X	Stomach cancer, Nausea and vomiting, Malabsorption, Abdominal pain, Neoplasm of the rectum, Hepat...	ORPHA:440437
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Fa...	OMIM:242150
Classic Homocystinuria	Pulmonary embolism, Cerebral ischemia, Subcutaneous hemorrhage, Intracranial hemorrhage, Hyperten...	ORPHA:394
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Adult-Onset Dystonia-Parkinsonism	Abnormal circulating creatine kinase concentration, Frontotemporal dementia, Spasticity, Rigidity...	ORPHA:199351
Leukodystrophy, Hypomyelinating, 6	Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia	OMIM:612438
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor	OMIM:615631
Zollinger-Ellison Syndrome	Peptic ulcer, Episodic abdominal pain, Diarrhea, Duodenal ulcer, Jaundice, Esophagitis, Intestina...	ORPHA:913
Rin2 Syndrome	Bruising susceptibility, Redundant skin, Upper eyelid edema, Umbilical hernia	ORPHA:217335
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Cerebellar hemorrhage, Congestive heart failure, Dilated cardiomyopathy, Hy...	ORPHA:99901
Thrombocytopenia 3	Epistaxis, Petechiae	OMIM:273900
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Upper limb spasticity, Tremor, Overweight, Anxiety, Hyperkinetic movements, Cranial hyperostosis,...	ORPHA:457240
Infantile Liver Failure Syndrome 2	Hyperammonemia, Prolonged prothrombin time	OMIM:616483
Stormorken Syndrome	Abnormal bleeding, Bruising susceptibility, Epistaxis, Stroke-like episode, Subarachnoid hemorrhage	OMIM:185070
Aspergillosis	Stroke, Intracranial hemorrhage	ORPHA:1163
Cholestasis, Progressive Familial Intrahepatic, 5	Hyperammonemia, Prolonged prothrombin time, Conjugated hyperbilirubinemia, Elevated circulating a...	OMIM:617049
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Multiple joint contractures, Writer's cramp, Torticollis, Babinski sign, Torsion d...	OMIM:128100
Pheochromocytoma	Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Renal artery sten...	OMIM:171300
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Gait ataxia, Spasticity, Oculomotor apraxia, Dysmetria, Tremor, Osteopenia, Osteoporosis	ORPHA:529665
Spondyloenchondrodysplasia With Immune Dysregulation	Raynaud phenomenon, Purpura, Joint swelling	OMIM:607944
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Subdural hemorrhage	OMIM:618291
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia	ORPHA:79095
Hereditary Pheochromocytoma-Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:29072
S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Fail...	ORPHA:88618
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Dementia, Mildly elevated creatine kinase, Tremor, Frequent falls, Progressive neur...	ORPHA:329478
Chikungunya	Cutaneous photosensitivity, Skin vesicle, Pedal edema, Vomiting, Diarrhea, Petechiae, Raynaud phe...	ORPHA:324625
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Abnormal duodenum morphology, Mitral valve prolapse, Tricuspid valve prolapse, Bruising susceptib...	OMIM:601776
Hermansky-Pudlak Syndrome 4	Epistaxis, Menorrhagia, Abnormal bleeding, Bruising susceptibility	OMIM:614073
Menkes Disease	Nausea and vomiting, Malabsorption, Feeding difficulties in infancy, Intracranial hemorrhage, Dry...	ORPHA:565
Glucagonoma	Intermittent jaundice, Episodic abdominal pain, Diarrhea, Poor appetite, Nausea and vomiting, Sto...	ORPHA:97280
Propionic Acidemia	Cerebellar hemorrhage, Cardiomyopathy	OMIM:606054
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Aggressive behavior, Spastic tetraplegia, Limb hypertonia, Ataxia, Dysmetria, Tremor, Hypertonia,...	OMIM:617710
Tyrosinemia, Type I	Hepatic failure, Paralytic ileus, Hepatocellular carcinoma, Episodic vomiting, Hypertrophic cardi...	OMIM:276700
Hermansky-Pudlak Syndrome	Malabsorption, Abdominal pain, Abnormal bleeding, Bruising susceptibility, Epistaxis, Anorexia, G...	ORPHA:79430
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Hypoalbuminemia	ORPHA:656
Duodenal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Palpitations, Hematemesis, Gastrointestinal obstruction, Intermit...	ORPHA:100076
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Death in childhood, Pallor	OMIM:246450
Ehlers-Danlos Syndrome, Classic-Like, 2	Mitral valve prolapse, Bruising susceptibility, Prominent superficial veins, Redundant skin, Prem...	OMIM:618000
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Blepharospasm, Torsion dystonia, Tremor	OMIM:224500
Juvenile Polyposis Syndrome	Juvenile colonic polyposis, Diarrhea, Neoplasm of the gastrointestinal tract, Spontaneous, recurr...	ORPHA:2929
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Rigidity, Limb dystonia, Demen...	OMIM:616840
Cocaine Intoxication	Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent...	ORPHA:90068
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Short...	OMIM:261740
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Bruising susceptibility	ORPHA:231401
Histiocytoid Cardiomyopathy	Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti...	ORPHA:137675
Purine Nucleoside Phosphorylase Deficiency	Spastic diplegia, Increased circulating inosine concentration, Neutropenia in presence of anti-ne...	OMIM:613179
Grfoma	Intermittent jaundice, Episodic abdominal pain, Diarrhea, Poor appetite, Nausea and vomiting, Hyp...	ORPHA:97261
Xfe Progeroid Syndrome	Enamel hypoplasia, Absence of subcutaneous fat, Corneal scarring, Poor coordination, Cachexia, Fa...	OMIM:610965
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Bloody diarrhea, Vasculitis in the skin, Inflammation of the large intestine, Colonic eosinophili...	OMIM:617718
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Liver Failure, Infantile, Transient	Hyperbilirubinemia, Irritability, Hypoalbuminemia	OMIM:613070
Pauci-Immune Glomerulonephritis	Pulmonary hemorrhage, Small vessel vasculitis, Abnormality of the gastrointestinal tract, Abdomin...	ORPHA:93126
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke	ORPHA:447788
Irida Syndrome	Pallor	ORPHA:209981
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Dravet Syndrome	Pallor	ORPHA:33069
Combined Oxidative Phosphorylation Deficiency 37	Spasticity, Hyperalaninemia, Failure to thrive, Progressive neurologic deterioration, Hypoalbumin...	OMIM:618329
Systemic Sclerosis	Abnormal large intestine morphology, Abnormal stomach morphology, Pericarditis, Abnormal esophagu...	ORPHA:90291
Somatostatinoma	Intermittent jaundice, Episodic abdominal pain, Diarrhea, Poor appetite, Nausea and vomiting, Ste...	ORPHA:97283
Ehlers-Danlos Syndrome, Classic-Like	Striae distensae, Mitral valve prolapse, Bruising susceptibility, Poor wound healing, Quadricuspi...	OMIM:606408
Common Variable Immunodeficiency	Gastrointestinal stroma tumor, Purpura, Anal atresia, Vasculitis	ORPHA:1572
Young-Onset Parkinson Disease	Spasticity, Cognitive impairment, Frontal lobe dementia, Rigidity, Apathy, Dementia, Tremor, Anxi...	ORPHA:2828
Gaucher Disease Type 1	Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Abdominal pain, Bruising susc...	ORPHA:77259
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Pallor	OMIM:605549
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Subarachnoid hemorrhage, Cerebral vasculitis	OMIM:243700
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Bruising susceptibility	ORPHA:157965
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Ischemic stroke, Cutis laxa, Hypertension, Bruising susceptibility, Aort...	OMIM:208050
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Moyamoya phenomenon	ORPHA:401986
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp...	ORPHA:811
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Cardiomyopathy	OMIM:251000
Avian Influenza	Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:454836
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Failure to thrive, Flexion contracture, Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Tay-Sachs Disease	Cherry red spot of the macula, Pallor	OMIM:272800
Congenital Tricuspid Valve Dysplasia	Cyanosis, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnorm...	ORPHA:555874
Cutis Laxa, Autosomal Recessive, Type Iib	Lack of skin elasticity, Gastroesophageal reflux, Bruising susceptibility, Prominent superficial ...	OMIM:612940
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Lymphopenia, Ataxia, Increased mean corpuscular volume, Thrombocytopenia, Apl...	OMIM:127550
Angioosteohypertrophic Syndrome	Pulmonary embolism, Lymphedema, Skin ulcer, Cutis marmorata, Congestive heart failure, Gastrointe...	ORPHA:2346
Adiposis Dolorosa	Diarrhea, Bruising susceptibility, Xerostomia, Constipation, Telangiectasia of the skin, Dry skin	ORPHA:36397
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Flexion contracture, Thrombocytopenia, Neutropenia, Splenomegaly, Hypoalbumin...	OMIM:617303
Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Pallor	ORPHA:263455
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Telangiectasia, Gastrointestinal carcinoma, Mitral valve prolapse, Epistaxis, Juvenile gastrointe...	OMIM:175050
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash...	ORPHA:275
Behçet Disease	Endocarditis, Pulmonary embolism, Recurrent aphthous stomatitis, Cerebral ischemia, Nausea and vo...	ORPHA:117
Cog8-Cdg	Spontaneous hematomas, Protein-losing enteropathy, Prolonged prothrombin time	ORPHA:95428
Progressive Supranuclear Palsy	Blepharospasm, Cognitive impairment, Rigidity, Dementia, Tremor, Dystonia, Memory impairment, Bra...	ORPHA:683
Noonan Syndrome 13	Gastroesophageal reflux, Lymphedema, Mitral valve prolapse, Atrial septal defect, Bruising suscep...	OMIM:619087
Combined Oxidative Phosphorylation Deficiency 18	Dysmetria, Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia	OMIM:615578
Cardiac-Valvular Ehlers-Danlos Syndrome	Pulmonary insufficiency, Mitral valve prolapse, Left ventricular hypertrophy, Bruising susceptibi...	ORPHA:230851
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia, Osteoporosis	OMIM:612562
Beta-Thalassemia Intermedia	High-output congestive heart failure, Skin ulcer, Pulmonary arterial hypertension, Pallor	ORPHA:231222
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Thro...	OMIM:251880
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Decreased prealbumin level, Neutropenia in presence of anti-neutrop...	ORPHA:37042
Senior-Loken Syndrome 8	Vascular dilatation, Pallor	OMIM:616307
Relapsing Fever	Increased total bilirubin, Abnormal bleeding, Epistaxis, Elevated circulating C-reactive protein ...	ORPHA:91547
Cushing Syndrome Due To Ectopic Acth Secretion	Pedal edema, Malignant gastrointestinal tract tumors, Striae distensae, Neoplasm of the stomach, ...	ORPHA:99889
Kanzaki Disease	Petechiae, Lymphedema, Telangiectasia of the oral mucosa, Lacunar stroke, Angiokeratoma corporis ...	OMIM:609242
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol...	ORPHA:567548
Cold Agglutinin Disease	Pallor	ORPHA:56425
Bannayan-Riley-Ruvalcaba Syndrome	Telangiectasia, Subcutaneous hemorrhage, Arteriovenous malformation, Aortic aneurysm, Intracrania...	ORPHA:109
Adult-Onset Autosomal Dominant Leukodystrophy	Gait ataxia, Spasticity, Flexion contracture, Cognitive impairment, Abnormal pyramidal sign, Spas...	ORPHA:99027
Alg12-Cdg	Abnormal bone ossification, B lymphocytopenia, Camptodactyly, Failure to thrive, Hyponatremia, Hy...	ORPHA:79324
Amoebiasis Due To Entamoeba Histolytica	Weight loss, Anemia, Leukocytosis, Hypoalbuminemia	ORPHA:67
Pigmented Nodular Adrenocortical Disease, Primary, 4	Fragile skin, Hypertension, Bruising susceptibility, Dorsocervical fat pad	OMIM:615830
Myopathy, Mitochondrial, And Ataxia	Multiple lipomas, Dysdiadochokinesis, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating c...	OMIM:617675
Hermansky-Pudlak Syndrome 8	Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Excessive bleeding from superf...	OMIM:614077
Brittle Cornea Syndrome 2	Bruising susceptibility, Umbilical hernia	OMIM:614170
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Rigidity, Dementia, Tremor, Dystonia, Bradykinesia	OMIM:168600
Noonan Syndrome 4	Polyhydramnios, Ventricular septal defect, Abnormal bleeding, Bruising susceptibility, Atrial sep...	OMIM:610733
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Hyperbilirubinemia, Prolonged prothrombin time, Elevated circulating creatine...	OMIM:614300
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Agel Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Blepharochalasis, Cutis laxa, Dermatologica...	ORPHA:85448
Scleroderma	Pulmonary arterial hypertension, Gastroesophageal reflux, Gastrointestinal telangiectasia, Inters...	ORPHA:801
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Poor fine motor coordination, Exaggerated startle response, ...	ORPHA:845
Hepatocellular Carcinoma	Anemia, Weight loss, Hypokalemia, Hyperbilirubinemia, Polycythemia, Emotional lability, Thrombocy...	ORPHA:88673
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor	OMIM:600462
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Prominent superficial veins, Bruising susceptibility	OMIM:612350
Spinocerebellar Ataxia 8	Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia	OMIM:608768
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Anemia, Atrophic scars, Scarring, Failure to thrive, Craniosynostosis, Hypoalb...	ORPHA:79396
Turcot Syndrome With Polyposis	Vomiting, Diarrhea, Abdominal pain, Hepatoblastoma, Intestinal polyposis, Colon cancer, Nausea, C...	ORPHA:99818
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hypoalbuminemia	OMIM:602579
Primary Sjögren Syndrome	Raynaud phenomenon, Skin ulcer, Cutis marmorata, Purpura, Arteritis, Xerostomia, Parotitis, Dry s...	ORPHA:289390
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Palmoplantar cutis laxa, Congestive heart failure, Bruising susceptibility, Gastrointestinal hemo...	OMIM:225400
Cholestasis, Progressive Familial Intrahepatic, 6	Chronic diarrhea, Bruising susceptibility, Bleeding requiring red cell transfusion	OMIM:619484
Galloway-Mowat Syndrome 1	Spasticity, Joint contracture of the hand, Spastic tetraplegia, Small for gestational age, Campto...	OMIM:251300
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Blepharochalasis, Dermal translucency, Bruising susceptibility, Fragile skin, Redundant skin, Gin...	OMIM:225410
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Blepharospasm, Rigidity, Oculomotor apraxia, Spastic dysarthria, Dementia, Tremor, Bradykinesia	ORPHA:240094
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Hypokalemia, Tremor, Weight loss	OMIM:613239
Idiopathic Hypereosinophilic Syndrome	Pulmonary embolism, Transient ischemic attack, Supraventricular arrhythmia, Raynaud phenomenon, C...	ORPHA:3260
Rajab Interstitial Lung Disease With Brain Calcifications 1	Thin bony cortex, Anemia, Slender build, Unconjugated hyperbilirubinemia, Small for gestational a...	OMIM:613658
Methylmalonic Aciduria, Cbla Type	Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Failure to thrive, Hyperammonemia,...	OMIM:251100
Sandifer Syndrome	Gastroesophageal reflux, Esophagitis, Episodic vomiting, Hematemesis, Feeding difficulties, Hiatu...	ORPHA:71272
Lymphangioleiomyomatosis	Lymphedema, Abdominal pain, Chylopericardium, Chylothorax, Gastrointestinal hemorrhage, Ascites	ORPHA:538
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Neuronopathy, Distal Hereditary Motor, Type X	Bruising susceptibility	OMIM:620080
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Gait ataxia, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Oculomotor apraxia, Limb a...	OMIM:606002
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Splenomegaly, Abnormality of iron homeostasis, Cognitive impairment, Small fo...	OMIM:222470
Wolfram Syndrome	Cardiomyopathy, Malabsorption, Feeding difficulties in infancy, Constipation, Gastrointestinal he...	ORPHA:3463
Pachydermoperiostosis	Peptic ulcer, Malabsorption, Edema, Joint swelling, Gastrointestinal hemorrhage	ORPHA:2796
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pulmonary arterial hypertension, Bacterial endocarditis, Spontaneous, recurrent epistaxis, Skin u...	ORPHA:2072
Dominant Beta-Thalassemia	Skin ulcer, Dilated cardiomyopathy, Pallor, Arrhythmia, High-output congestive heart failure	ORPHA:231226
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Esophageal varix, Hypertension, Oligohydramnios, Dehydration, Hematemesis, Portal hypertension, N...	OMIM:263200
Von Hippel-Lindau Disease	Hypertension, Pallor, Myocardial infarction, Abnormal left ventricular function, Palpitations, Ar...	ORPHA:892
Parkinson Disease 21	Rigidity, Tremor, Bradykinesia, Parkinsonism	OMIM:616361
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Subcutaneous hemorrhage, Abnormal bleeding, Bruising susceptibility, ...	ORPHA:2953
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Tachycardia, Pallor	ORPHA:35858
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Chronic constipation, Feeding difficulties, Hematochezia, Ventricular septal defect	OMIM:619575
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Pallor	ORPHA:348
Beta-Ketothiolase Deficiency	Hypotension, Hypertension, Pallor	ORPHA:134
Hereditary Spherocytosis	Restrictive cardiomyopathy, Skin ulcer, Pallor	ORPHA:822
Secondary Intestinal Lymphangiectasia	Vomiting, Chronic diarrhea, Lymphedema, Intussusception, Malabsorption, Volvulus, Abdominal colic...	ORPHA:90363
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Mitral valve prolapse, Abnormal bleeding, Congestive heart failure, Bruising susceptibility, Frag...	ORPHA:1900
Parkinson Disease 20, Early-Onset	Parkinsonism, Rigidity, Eyelid apraxia, Involuntary movements, Tremor, Mental deterioration, Dyst...	OMIM:615530
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Mitral valve prolapse, Feeding difficulties in infancy, Hype...	OMIM:616914
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Death in infancy, Arrhythmia	OMIM:608836
Fanconi Anemia, Complementation Group I	Pallor	OMIM:609053
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune hemolytic ...	ORPHA:100026
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vomiting, Diarrhea, Abdominal pain, Bruising susceptibility, Pericarditis, Intestinal obstruction...	ORPHA:32960
Aregenerative Anemia	Abnormal bleeding, Bruising susceptibility, Pallor	ORPHA:101096
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis...	OMIM:274150
Noonan Syndrome 14	Polyhydramnios, Pulmonic stenosis, Mitral valve prolapse, Bruising susceptibility, Aortic regurgi...	OMIM:619745
Lymphatic Malformation 7	Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec...	OMIM:617300
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Emotional lability, Ataxia, Failure to thrive, Tremor, Irritability, Splenomegaly, Decreased seru...	OMIM:201100
Elliptocytosis 1	Pallor	OMIM:611804
Glycogen Storage Disease Ii	Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, D...	OMIM:232300
Pyoderma Gangrenosum	Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis	ORPHA:48104
Galloway-Mowat Syndrome 3	Spasticity, Camptodactyly, Failure to thrive, Hiatus hernia, Hypoalbuminemia	OMIM:617729
Hutchinson-Gilford Progeria Syndrome	Lack of skin elasticity, Pulmonary arterial hypertension, Left ventricular diastolic dysfunction,...	ORPHA:740
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Patent foramen ovale, Vomiting, Ventricular septal defect, Pericardial effusion, Jaundice, Dilate...	ORPHA:26793
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Cardiac arrest, Dilated cardiomyopathy, Pallor, Prolonged prothrombin time	ORPHA:20
Congenital Bile Acid Synthesis Defect Type 2	Abnormal serum bile acid concentration, Hyperbilirubinemia, Giant cell hepatitis, Prolonged proth...	ORPHA:79303
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Syncope, Tachycardia, Pallor	ORPHA:98849
Glutaryl-Coa Dehydrogenase Deficiency	Chorea, Cognitive impairment, Rigidity, Limb dystonia, Poor motor coordination, Dementia, Ataxia,...	ORPHA:25
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage	OMIM:301081
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Dysdiadochokinesis, Myoclonus, Choreoathetosis, Acut...	OMIM:208900
Beta-Thalassemia Major	Skin ulcer, Dilated cardiomyopathy, Pallor, Arrhythmia, High-output congestive heart failure	ORPHA:231214
8Q24.3 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Gastroesophageal reflux, Nasogastric tub...	ORPHA:508488
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage	OMIM:618480
Hellp Syndrome	Hypotension, Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage	ORPHA:244242
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Bruising susceptibility	ORPHA:98791
Sheehan Syndrome	Pallor, Palpitations, Orthostatic hypotension, Bradycardia, Dry skin	ORPHA:91355
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Patent ductus arteriosus, Interrupted aortic arch, Intracranial hemorrhage, Heart murmur	ORPHA:163979
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Antinuclear a...	ORPHA:331235
Nelson Syndrome	Hypertension, Striae distensae, Intracranial hemorrhage	ORPHA:199244
Pituitary Apoplexy	Hypotension, Hypertension, Pallor	ORPHA:95613
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Hemipl...	OMIM:612199
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a...	ORPHA:124
Acth-Independent Macronodular Adrenal Hyperplasia	Striae distensae, Hypertension, Bruising susceptibility	OMIM:219080
Niemann-Pick Disease Type C	Limb dystonia, Cataplexy, Upper motor neuron dysfunction, Hepatosplenomegaly, Axial dystonia, Bon...	ORPHA:646
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin...	ORPHA:71212
Pigmented Nodular Adrenocortical Disease, Primary, 2	Striae distensae, Hypertension, Bruising susceptibility	OMIM:610475
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Coronal craniosynostosis, Camptodactyly, Umbilical hernia, Hypoalb...	OMIM:235510
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pedal edema, Elevated pulmonary artery pressure, Hemothorax, Pulmonary edema, Pericardi...	ORPHA:199241
Reynolds Syndrome	Jaundice, Raynaud phenomenon, Steatorrhea, Gastrointestinal hemorrhage, Palmar telangiectasia, Li...	OMIM:613471
Triosephosphate Isomerase Deficiency	Spasticity, Hemolytic anemia, Normocytic anemia, Failure to thrive, Chronic hemolytic anemia, Tre...	OMIM:615512
Chédiak-Higashi Syndrome	Cutaneous photosensitivity, Pericardial effusion, Jaundice, Abnormal platelet function, Abnormal ...	ORPHA:167
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Anemia, Flexion contracture, Hernia, Hepatosplenomegaly, Thrombocytopenia, Hypoalbumi...	ORPHA:505248
Kyphoscoliotic Ehlers-Danlos Syndrome	Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Aortic aneurysm, Bruising susceptibility...	ORPHA:536545
Classical-Like Ehlers-Danlos Syndrome Type 2	Pericardial effusion, Mitral valve prolapse, Bruising susceptibility, Redundant skin, Prominent v...	ORPHA:536532
Neurodegeneration With Brain Iron Accumulation 1	Spasticity, Blepharospasm, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Rigidity, Eyelid ...	OMIM:234200
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypertension, Intracranial hemorrhage	ORPHA:90795
Insulin-Resistance Syndrome Type B	Leukopenia, Abnormal circulating lipid concentration, Decreased body weight, Weight loss, Increas...	ORPHA:2298
Myasthenia Gravis	Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Hepatitis, Anti-acetylcholin...	ORPHA:589
Noonan Syndrome 3	Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Ventricular septal defect, Mitral...	OMIM:609942
Adenohypophysitis	Orthostatic hypotension, Pallor	ORPHA:95512
Non-Functioning Pituitary Adenoma	Hypotension, Pallor	ORPHA:91349
Leigh Syndrome With Nephrotic Syndrome	Hypoalbuminemia	ORPHA:255249
Wilson Disease	Jaundice, Acute hepatic failure, Joint swelling, Bruising susceptibility	ORPHA:905
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchiectasis, Allergic rhinitis, Rheumatoid arthritis, Skin rash, Arthritis, Autoimmunity, Chro...	ORPHA:183675
Noonan Syndrome 9	Prolonged prothrombin time	OMIM:616559
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Patent ductus arteriosus, Polyhydramnios, Cutis laxa, Bruising susceptibility, Mitral regurgitati...	OMIM:614557
Letterer-Siwe Disease	Pallor	OMIM:246400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Failure to thrive, Conjugated hyperbili...	OMIM:617156
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Alternating Hemiplegia Of Childhood	Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia, Cardiomyopathy	ORPHA:2131
Cardiac-Urogenital Syndrome	Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar...	OMIM:618280
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating uracil concentration, Episodic ammonia intoxication, Hyperammonemia, Prolong...	OMIM:311250
Pyruvate Kinase Deficiency Of Red Cells	Pallor	OMIM:266200
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Primary Pigmented Nodular Adrenocortical Disease	Striae distensae, Abnormal subcutaneous fat tissue distribution, Hypertension, Bruising susceptib...	ORPHA:189439
Riddle Syndrome	Telangiectasia, Scaling skin, Conjunctival telangiectasia, Erythema, Intraventricular hemorrhage	ORPHA:420741
Panhypophysitis	Orthostatic hypotension, Pallor	ORPHA:95513
Loeys-Dietz Syndrome 3	Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm, Aortic dissection, Suba...	OMIM:613795
Loeys-Dietz Syndrome 4	Striae distensae, Eosinophilic infiltration of the esophagus, Bicuspid aortic valve, Mitral valve...	OMIM:614816
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Abnormality of extrapyramidal mot...	OMIM:277400
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage,...	ORPHA:79282
Fumarase Deficiency	Pallor	OMIM:606812
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi...	ORPHA:186
Overlap Myositis	Subluxation of the small joints of the hand, Rheumatoid arthritis, Arthritis, Autoimmunity, Syste...	ORPHA:206572
Autosomal Recessive Polycystic Kidney Disease	Fat malabsorption, Jaundice, Cholangiocarcinoma, Hypertension, Oligohydramnios, Hepatoblastoma, F...	ORPHA:731
Ehlers-Danlos Syndrome, Vascular Type	Hemothorax, Dermal translucency, Mitral valve prolapse, Diffuse alveolar hemorrhage, Bruising sus...	OMIM:130050
Prolactinoma	Hypotension, Pallor	ORPHA:2965
Rift Valley Fever	Retinal hemorrhage, Macular edema, Jaundice, Abnormal bleeding, Miscarriage, Anorexia, Gingival b...	ORPHA:319251
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Infantile Liver Failure Syndrome 3	Hyperammonemia, Prolonged prothrombin time	OMIM:618641
Superficial Siderosis	Abnormal vertebral artery morphology, Arteriovenous malformation, Abnormal bleeding, Internal hem...	ORPHA:247245
Autosomal Dominant Spastic Paraplegia Type 9A	Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Dementia, Babinski sign, Tremor, Memor...	ORPHA:447753
Cockayne Syndrome Type 3	Aortic root aneurysm, Retinal hemorrhage, Subdural hemorrhage, Premature coronary artery atherosc...	ORPHA:90324
Incontinentia Pigmenti	Retinal hemorrhage, Erythema, Pallor	OMIM:308300
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Arterial rupture, Intrauterine growth retardation, Bruising susceptibility	OMIM:612394
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Supranuclear Palsy, Progressive, 1	Retrocollis, Frontolimbic dementia, Parkinsonism, Rigidity, Limb dystonia, Eyelid apraxia, Apathy...	OMIM:601104
Loeys-Dietz Syndrome 5	Patent foramen ovale, Ventricular septal defect, Eosinophilic infiltration of the esophagus, Redu...	OMIM:615582
Pigmented Nodular Adrenocortical Disease, Primary, 1	Striae distensae, Hypertension, Bruising susceptibility	OMIM:610489
Blue Rubber Bleb Nevus	Intussusception, Rectal prolapse, Intestinal bleeding, Volvulus	OMIM:112200
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Autoimmune Polyendocrinopathy Type 4	Tubulointerstitial nephritis, Atrophic gastritis, Iridocyclitis, Hepatitis, Rheumatoid arthritis,...	ORPHA:227990
Spondyloepimetaphyseal Dysplasia, Krakow Type	Patent ductus arteriosus, Atrial septal defect, Bruising susceptibility, Constipation, Feeding di...	OMIM:618162
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage	ORPHA:79284
Medulloblastoma	Cerebellar hemorrhage	ORPHA:616
Neuroleptic Malignant Syndrome	Chorea, Hyperphosphatemia, Hyperuricemia, Anxiety, Oculogyric crisis, Hypocalcemia, Hyperkalemia,...	ORPHA:94093
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Osteomalacia, We...	OMIM:619381
Fructose Intolerance, Hereditary	Vomiting, Jaundice, Abdominal pain, Malnutrition, Nausea, Gastrointestinal hemorrhage	OMIM:229600
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Striae distensae, Hypertension, Bruising susceptibility, Plethora, Dorsocervical fat pad	ORPHA:189427
Congenital Total Pulmonary Venous Return Anomaly	Patent ductus arteriosus, Pulmonary arterial hypertension, Double outlet right ventricle, Cardiac...	ORPHA:99125
Yellow Fever	Vomiting, Diarrhea, Reduced left ventricular ejection fraction, Jaundice, Supraventricular arrhyt...	ORPHA:99829
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Congenital Tricuspid Stenosis	Bacterial endocarditis, Rheumatoid arthritis	ORPHA:95459
Hardikar Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hepatic failure, Vomiting, Ventricular septal def...	OMIM:301068
Tsh-Secreting Pituitary Adenoma	Hypotension, Ventricular arrhythmia, Supraventricular arrhythmia, Congestive heart failure, Hyper...	ORPHA:91347
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Babinski sign, Failure to thrive, Tremor, Elevated hemoglobin A1c, Hypertonia, Irrita...	OMIM:616539
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Primary Sclerosing Cholangitis	Weight loss, Abnormal eosinophil morphology, Hepatosplenomegaly, Osteoporosis, Osteopenia, Histio...	ORPHA:171
Hydranencephaly	Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th...	ORPHA:2177
Autoimmune Polyendocrinopathy Type 3	Tubulointerstitial nephritis, Atrophic gastritis, Iridocyclitis, Hepatitis, Rheumatoid arthritis,...	ORPHA:227982
Marshall-Smith Syndrome	Bruising susceptibility	ORPHA:561
Arachnoid Cyst	Subarachnoid hemorrhage, Encephalocele	ORPHA:2356
Thymoma	Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Autoimmunity, Ulcerative c...	ORPHA:99867
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enterocolitis, Diarrhea, Hepatocellular adenoma, Abnormal bleeding, Hypertension, Bruising suscep...	ORPHA:79259
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Pulmonic stenosis, Bruising susceptibility, Dermal translucency	OMIM:618343
Adenocarcinoma Of The Anal Canal	Neoplasm of the rectum, Abdominal pain, Skin ulcer, Neoplasm of the liver, Intestinal bleeding, A...	ORPHA:424016
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage	ORPHA:91350
Pearson Marrow-Pancreas Syndrome	Death in childhood, Erythema, Pallor	OMIM:557000
Multiple System Atrophy 1, Susceptibility To	Cognitive impairment, Parkinsonism, Rigidity, Ataxia, Babinski sign, Tremor, Bradykinesia	OMIM:146500
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Bruising susceptibility, Premature graying of hair	OMIM:112250
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Intraventricular hemorrhage	OMIM:613603
Brittle Cornea Syndrome	Mitral valve prolapse, Pulmonic stenosis, Bruising susceptibility	ORPHA:90354
Peutz-Jeghers Syndrome	Bloody diarrhea, Intussusception, Gastrointestinal carcinoma, Abdominal pain, Multiple gastric po...	OMIM:175200
Osteogenesis Imperfecta	Aortic root aneurysm, Cutis laxa, Cerebral hemorrhage, Aortic aneurysm, Arterial dissection, Brui...	ORPHA:666
Dpagt1-Cdg	Prolonged QT interval, Intracranial hemorrhage, Stroke-like episode	ORPHA:86309
Diamond-Blackfan Anemia 1	Coarctation of aorta, Congestive heart failure, Tricuspid stenosis, Pallor	OMIM:105650
Smith-Lemli-Opitz Syndrome	Aggressive behavior, Epiphyseal stippling, Failure to thrive, Self-mutilation, Hypertonia, Hypoch...	OMIM:270400
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Fragile skin, Bruising susceptibility	OMIM:617821
Fanconi Anemia, Complementation Group E	Anemic pallor, Abnormal heart morphology, Bruising susceptibility	OMIM:600901
Celiac Disease, Susceptibility To, 1	Recurrent aphthous stomatitis, Thyroiditis, Eczema, Stomatitis, Prolonged prothrombin time, Hypoc...	OMIM:212750
Meester-Loeys Syndrome	Striae distensae, Mitral valve prolapse, Bruising susceptibility, Poor wound healing, Umbilical h...	OMIM:300989
Chediak-Higashi Syndrome	Spontaneous, recurrent epistaxis, Jaundice, Bruising susceptibility	OMIM:214500
Lymphoid Interstitial Pneumonia	Bronchiectasis, Rheumatoid arthritis, Skin rash, Keratoconjunctivitis sicca, Autoimmunity, Eczema...	ORPHA:79128
Fanconi Anemia, Complementation Group C	Anemic pallor, Intrauterine growth retardation, Bruising susceptibility, Ventricular septal defect	OMIM:227645
Fanconi Anemia, Complementation Group A	Anemic pallor, Abnormal heart morphology, Bruising susceptibility	OMIM:227650
Viss Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Aortic root aneurysm, Tortuous cerebra...	OMIM:619472
Congenital Disorder Of Glycosylation, Type It	Hepatitis, Recurrent otitis media, Elevated circulating creatine kinase concentration, Prolonged ...	OMIM:614921
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Pulmonary artery stenosis, Bruising susceptibility, Pallor	ORPHA:667
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Hypertension associated with pheochromocytoma, Palpitations, Pallor	ORPHA:653
Osteogenesis Imperfecta, Type I	Mitral valve prolapse, Bruising susceptibility	OMIM:166200
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Esophageal atresia, Bruising susceptibility, Tracheoesophageal fistula,...	OMIM:227646
Igg4-Related Retroperitoneal Fibrosis	Anti-thyroid peroxidase antibody positivity, Rheumatoid arthritis, Deep dermal perivascular infla...	ORPHA:49041
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Hereditary Xanthinuria	Gout, Arthropathy, Rheumatoid arthritis	ORPHA:3467
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Myocarditis, Hypertension, Pallor	ORPHA:544482
Aneurysm-Osteoarthritis Syndrome	Patent ductus arteriosus, Striae distensae, Left ventricular hypertrophy, Bruising susceptibility...	ORPHA:284984
Esophageal Atresia	Coarctation of aorta, Tetralogy of Fallot, Pallor	ORPHA:1199
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage	OMIM:619714
Degcags Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Pulmonic stenosis, Pallor, Persistent ...	OMIM:619488
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Increased total iron binding capacity, Hyperglycinemia, Abnormal blood inorganic cation concentra...	ORPHA:309854
Mucoepithelial Dysplasia, Hereditary	Cor pulmonale, Chronic diarrhea, Corneal neovascularization, Melena	OMIM:158310
Sialuria	Prolonged prothrombin time	ORPHA:3166
Plague	Hypotension, Endocarditis, Bloody diarrhea, Vomiting, Enterocolitis, Diarrhea, Abdominal pain, Sk...	ORPHA:707
Caroli Syndrome	Hepatic failure, Abdominal rigidity, Jaundice, Abdominal pain, Abnormal bleeding, Cholangiocarcin...	ORPHA:480520
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Aortic aneurysm, Intraventricular hemorrhage, Pulmonic stenosis, Cardiomyopathy	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Aortic aneurysm, Intraventricular hemorrhage, Pulmonic stenosis, Cardiomyopathy	ORPHA:363958
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Abnormal bleeding, Prolonged prothrombin time	OMIM:616271
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Cerebral hemorrhage	OMIM:616682
Meningioma	Syncope, Cerebral hemorrhage	ORPHA:2495
Noonan Syndrome 1	Patent ductus arteriosus, Ventricular septal defect, Lymphedema, Pulmonic stenosis, Feeding diffi...	OMIM:163950
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Recurrent aphthous stomatitis, Abnormal bleeding, Hepatocellular carcinoma, Brui...	ORPHA:3261
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Oligohydramnios, Mitral valve prolapse, Bruising susceptibility, Dermal translucency	ORPHA:536467
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Acute Transverse Myelitis	Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension	ORPHA:139417
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Dilation of Virchow-Robin spaces, Retin...	OMIM:175780
Biliary, Renal, Neurologic, And Skeletal Syndrome	Spasticity, Hyperbilirubinemia, Inguinal hernia, Failure to thrive, Increased circulating ferriti...	OMIM:619534
Occipital Horn Syndrome	Gastroesophageal reflux, Poor suck, Jaundice, Abnormal esophagus physiology, Bruising susceptibil...	ORPHA:198
Occipital Horn Syndrome	Bruising susceptibility, Redundant skin, Chronic diarrhea, Orthostatic hypotension, Hiatus hernia	OMIM:304150
Multiple Endocrine Neoplasia Type 1	Peptic ulcer, Gastroesophageal reflux, Vomiting, Diarrhea, Duodenal ulcer, Abdominal pain, Hypert...	ORPHA:652
Witteveen-Kolk Syndrome	Branchial fistula, Intracranial hemorrhage	OMIM:613406
Eisenmenger Syndrome	Hyperuricemia, Hypochromic microcytic anemia, Abnormal B-type natriuretic peptide concentration, ...	ORPHA:97214
Vascular Ehlers-Danlos Syndrome	Dermal translucency, Transient ischemic attack, Mitral valve prolapse, Abnormal bleeding, Hyperte...	ORPHA:286
Loeys-Dietz Syndrome	Patent ductus arteriosus, Striae distensae, Cardiac arrest, Abnormal bleeding, Bruising susceptib...	ORPHA:60030
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Hepatoblastoma, Colon cancer, Intestinal bleeding, Desmoid tumors, Adenomatou...	ORPHA:261584
Isolated Biliary Atresia	Prolonged prothrombin time, Conjugated hyperbilirubinemia	ORPHA:30391
Goodpasture Syndrome	Pulmonary hemorrhage, Pallor	OMIM:233450
Shwachman-Diamond Syndrome 2	Prolonged prothrombin time	OMIM:617941
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Pmm2-Cdg	Multiple joint contractures, Abnormal subcutaneous fat tissue distribution, Impaired neutrophil c...	ORPHA:79318
Neurofibroma	Multiple intestinal neurofibromatosis, Intestinal bleeding	ORPHA:252183
Carney Complex	Neoplasm of the stomach, Striae distensae, Esophageal neoplasm, Neoplasm of the rectum, Hepatocel...	ORPHA:1359
Tropical Endomyocardial Fibrosis	Cachexia, Splenomegaly, Eosinophilia, Hypoalbuminemia	ORPHA:75565
Hereditary Sensory And Autonomic Neuropathy Type 4	Orthostatic hypotension due to autonomic dysfunction, Syncope, Bruising susceptibility, Dysphagia...	ORPHA:642
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Decreased LDL cholesterol concentration, Prolonged prothrombin time, Hypotriglyceridemia	ORPHA:404454
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Tuberous Sclerosis Complex	Hypertension, Internal hemorrhage	ORPHA:805
Congenital Disorder Of Glycosylation, Type Iiw	Bleeding with minor or no trauma, Membranoproliferative glomerulonephritis, Prolonged prothrombin...	OMIM:619525
Pregnancy Loss, Recurrent, Susceptibility To, 2		OMIM:614390

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 F2

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 F2.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Dedicated transcriptomics combined with power analysis lead to functional understanding of genes with weak phenotypic changes in knockout lines.	PLoS computational biology (November 2020)	A830005F24Rik^{tm1.1(KOMP)Mbp}	PMC7685438
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	2610509F24Rik^{tm1.1(NCC)WCS} 8030411F24Rik^{tm2b(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	2610509F24Rik^{tm1.1(NCC)WCS} 8030411F24Rik^{tm2b(EUCOMM)Wtsi}	PMC6671969
A T cell-specific knockout reveals an important role for protease-activated receptor 2 in lymphocyte development.	The international journal of biochemistry & cell biology (September 2017)	F2rl1^{tm1c(EUCOMM)Wtsi} F2rl1^{tm1a(EUCOMM)Wtsi}	28951199
Counterregulation between thymic stromal lymphopoietin- and IL-23-driven immune axes shapes skin inflammation in mice with epidermal barrier defects.	The Journal of allergy and clinical immunology (March 2016)	F2rl1^{tm1a(EUCOMM)Wtsi}	26993035

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MGI Allele	Allele Type	Produced
F2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
F2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
F2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
F2^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, 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: F2 MGI:88380

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E18.5

Embryo LacZ

Adult LacZ

X-ray

X-ray

X-ray

Immunophenotyping

Auditory Brain Stem Response

Immunophenotyping

Human diseases caused by F2 mutations

Histopathology

IMPC related publications

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