Symptoms

The first step in rare disease diagnosis is to assess the patient's health and phenotypic information. We have compiled some general information for combinations of phenotypes that appear in the clinic. For each set of symptoms we show related diseases and genetic information. Once a medical doctor has found a potential diagnosis, the causative mutation can be confirmed through genotyping or sequencing.

Rare Disease Signs and Symptoms by name

Name
Abnormality of the skeletal system and Situs inversus totalis, related diseases and genetic alterations	View info
Abnormality of the skeletal system and Skin rash, related diseases and genetic alterations	View info
Abnormality of the skeletal system and Spastic tetraplegia, related diseases and genetic alterations	View info
Abnormality of the skeletal system and Spina bifida, related diseases and genetic alterations	View info
Abnormality of the skeletal system and Stroke, related diseases and genetic alterations	View info
Abnormality of the skeletal system and Synophrys, related diseases and genetic alterations	View info
Abnormality of the skeletal system and Tapered finger, related diseases and genetic alterations	View info
Abnormality of the skeletal system and Tetralogy of Fallot, related diseases and genetic alterations	View info
Abnormality of the skeletal system and Thin skin, related diseases and genetic alterations	View info
Abnormality of the skeletal system and Triangular face, related diseases and genetic alterations	View info
Abnormality of the skeletal system and Type I diabetes mellitus, related diseases and genetic alterations	View info
Abnormality of the skeletal system and Ulcerative colitis, related diseases and genetic alterations	View info
Abnormality of the skeletal system and Vesicoureteral reflux, related diseases and genetic alterations	View info
Anemia and Abnormal facial shape, related diseases and genetic alterations	View info
Anemia and Abnormal pyramidal sign, related diseases and genetic alterations	View info
Anemia and Abnormality of the eye, related diseases and genetic alterations	View info
Anemia and Abnormality of the metaphysis, related diseases and genetic alterations	View info
Anemia and Acidosis, related diseases and genetic alterations	View info
Anemia and Acute leukemia, related diseases and genetic alterations	View info
Anemia and Acute myeloid leukemia, related diseases and genetic alterations	View info

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